Aleksandar M. Vlahovic and Emir Q.

Haxhija

Pediatric and Adolescent Plastic Surgery

for the Clinician
Aleksandar M. Vlahovic
Department of Plastic Surgery and Burns, Institute for Mother and Child Health Care of
Republic Serbia, University of Belgrade, New Belgrade, Serbia

Emir Q. Haxhija
Department of Pediatric and Adolescent Surgery, Medical University Graz, Graz,
Austria

ISBN 978-3-319-56003-8 e-ISBN 978-3-319-56004-5

DOI 10.1007/978-3-319-56004-5

Library of Congress Control Number: 2017941188

© Springer International Publishing AG 2017

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I dedicate this book to my sons Maksim and Vuk and to my wife Natasa.
Aleksandar M. Vlahovic
Preface
Pediatric plastic surgery is a specific field of surgery which includes reconstructive and
aesthetic procedures in children.
The majority of procedures in pediatric plastic surgery are reconstructive in nature.
Purely aesthetic procedures in children are rare.
Pediatric plastic surgeons are involved in the treatment of a wide spectrum of
congenital lesions.
The treatment of patients in pediatric plastic surgery often requires a
multidisciplinary approach including different specialties (pediatricians, dermatologist,
vascular surgeons, orthopedic surgeons, maxillofacial surgeons, otorhinolaryngologist,
anesthesiologist, etc.) and other medical caregivers.
For most of the patients with clefts, malignant tumors, complicated hand anomalies,
and breast anomalies, long-term evaluation is required, very often in adulthood.
Health practitioners in their clinical practice are often dealing with these patients,
and this book should serve as a guide in their everyday practice.
This book includes 16 years of my personal experience in this field.
Aleksandar M. Vlahovic
Emir Q. Haxhija
Belgrade, Serbia, Graz, Austria
Abbreviations
AD Autosomal dominant
AER Apical ectodermal ridge
AM Arterial malformation
AMN Acquired melanocytic nevi
ASN Atypical spitzoid neoplasm
ASZ Alcoholic solution of zein
BA Branchial anomaly
BAA Branchial arch anomaly
BH Breast height
BRBN Blue rubber bleb nevus
BW Breast width
CCBR Cervical chondrocutaneous branchial remnant
CCBS Congenital constriction band syndrome
CL Cleft lip
CLOVES Congenital lipomatous overgrowth, vascular malformations, epidermal
nevi and scoliosis, skeletal or spinal anomalies
CLP Cleft lip and palate
CLVM Capillary-lymphatic-venous malformation
CM Capillary malformation
CMCJ Carpometacarpal joint
CMN Congenital melanocytic nevi
CNLN Congenital nevus-like nevus
CNs Cranial nerves
CNS Central nervous system
CO 2 Carbon dioxide
CP Cleft palate
CSS Cultured skin substitutes
CT Computerized tomography
DFSP Dermatofibrosarcoma protuberans
DHEA Dehydroepiandrosterone
DIC Disseminated intravascular coagulation
EPC Endothelial progenitor cell
EVLT Endovenous laser treatment
EXIT Ex utero intrapartum treatment
FGFR Fibroblast growth factor receptor
FGFs Fibroblast growth factors
FNAB Fine needle aspiration biopsy
FS Fibrosarcoma
FTSG Full-thickness skin graft
GLUT1 Glucose transporter protein
GPP Gingivoperiosteoplasty
GVM Glomuvenous malformation
GW Gestational week
HemEPCs Hemangioma-derived endothelial progenitor cells
HL Hodgkin lymphoma
IF Infantile fibrosarcoma
IHs Infantile hemangiomas
IMD Inframammary distance
IMF Inframammary fold
IPJ Interphalangeal joint
KHE Kaposiform hemangioendothelioma
KMP Kasabach-Merritt phenomenon
KTP Potassium titanyl phosphate
LAHSHAL Lip, alveolus, hard and soft palates
LCH Langerhans cell histiocytosis
LDH Lactate dehydrogenase
LIC Localized intravascular coagulopathy
LM Lymphatic malformation
LMWH Low molecular weight heparin
LUMBAR Lower body infantile hemangioma, urogenital anomalies and ulceration,
myelopathy, bony deformities, anorectal malformations and arterial anomalies,
renal anomalies
LVM Lymphaticovenous malformation
MC Metacarpal
MCPJ Metacarpophalangeal joint
MIBG Metaiodobenzylguanidine
MMPs Matrix metalloproteinases
MRI Magnetic resonance imaging
NAC Nipple-areola complex
NB Neuroblastoma
NCM Neurocutaneous melanosis
Nd:YAG Neodymium-doped yttrium aluminum garnet
NDCS Nasal dermoid cyst and sinus
NF Neurofibroma
NHL Non-Hodgkin lymphoma
NICH Noninvoluting congenital hemangioma
OMENS Orbital asymmetry, mandibular hypoplasia, ear deformity, nerve
involvement, soft tissue deficiency
OOM Orbicularis oris muscle
OOPS Operation on placental support
PAL Power-assisted liposuction
PDL Pulsed-dye laser
PG Pyogenic granuloma
PHACES Posterior fossa malformations, hemangioma, arterial anomalies,
cardiovascular anomalies, eye abnormalities, sternal clefting
PMM Pectoralis major muscle
PNAM Presurgical nasal and alveolar molding
pPNET Peripheral primitive neuroectodermal tumor
PSIO Presurgical infant orthopedics
PT Prothrombin time
PTT Partial thromboplastin time
RICH Rapidly involuting congenital hemangioma
RMS Rhabdomyosarcoma
SHBG Sex hormone-binding globulin
Shh Sonic hedgehog protein
SLN Sentinel lymph node
SpLN Speckled lentiginous nevus
SS Synovial sarcoma
SSN Suprasternal notch
STS Sodium tetradecyl sulfate
STSG Split-thickness skin graft
TA Tufted angioma
TGDC Thyroglossal duct cyst
TSH Thyroid-stimulated hormone
TTM Topical timolol maleate
UAL Ultrasound-assisted liposuction
US Ultrasound
UV Ultraviolet
VASER Vibration amplification of sound energy at resonance
VEGF Vascular endothelial growth factor
VH Verrucous hemangioma
VM Venous malformation
VPI Velopharyngeal insufficiency
WHO World Health Organization
Wnt Wingless type
ZPA Zone of polarizing activity
Contents
1 Introduction

2 Otoplasty

2.​1 Introduction

2.​1.​1 Epidemiology

2.​1.​2 Embryology

2.​1.​3 Anatomy

2.​2 Psychosocial Aspects

2.​3 Preoperative Evaluation

2.​4 Treatment Options

2.​5 Time of Otoplasty

2.​6 Techniques of Otoplasty

2.​6.​1 Pure Stitching Techniques

2.​6.​2 Pure Incision Techniques

2.​6.​3 Combined Incision-Suture Techniques

2.​6.​4 Lobuloplasty

2.​6.​5 Nonsurgical Correction of Protruding Ears

2.​6.​6 Complications of Otoplasty

2.​7 Postoperative Care

References
3 Microtia and Other Congenital Auricular Deformities

3.​1 Introduction

3.​2 Embryology

3.​3 Anatomy

3.​4 Microtia

3.​4.​1 Classification

3.​4.​2 Patient Evaluation

3.​4.​3 Surgical Reconstruction

3.​4.​4 Complications

3.​4.​5 Composite Autogenous/​Alloplastic Reconstruction

3.​4.​6 Prosthetic Reconstruction

3.​5 Constricted Ear

3.​6 Cryptotia

3.​7 Stahl’s Ear

References

4 Breast Augmentation in Children

4.​1 Introduction

4.​2 Embryology

4.​3 Breast Anatomy

4.​4 Patient Evaluation

4.​5 Implant Selection

 4.​6 Treatment Option

4.​7 Implant Type

4.​8 Implant Placement

4.​9 Postoperative Care

4.​10 Complications

References

5 Breast Reconstruction in Congenital Deformities

5.​1 Introduction

5.​2 Embryology

5.​3 Anatomy

5.​4 Diagnosis

5.​5 Classification

5.​5.​1 Breast Hyperplasia

5.​5.​2 Breast Masses

5.​5.​3 Breast Hypoplasia

5.​5.​4 Tuberous Breasts

5.​5.​5 Breast Asymmetry

5.​5.​6 Traumatic and Iatrogenic Breast Disease

5.​5.​7 Breast Infection

5.​5.​8 Nipple Discharge

References
6 Male Breast Reduction

6.​1 Introduction

6.​2 Embryology

6.​3 Anatomy

6.​4 Pathophysiology

6.​5 Pathology

6.​6 Classification

6.​7 Clinical Manifestation

6.​8 Diagnosis

6.​9 Treatment Option

6.​9.​1 Conservative Treatment

6.​9.​2 Surgical Treatment

6.​10 Complications

6.​11 Postoperative Care

References

7 Cleft Lip and Palate

7.​1 Introduction

7.​2 Embryology

7.​3 Cleft Anatomy

7.​4 Epidemiology

7.​5 Etiology
 7.​6 Diagnosis

7.​7 Surgical Evaluation and Classification

7.​8 Treatment of Cleft Patients

7.​8.​1 Feeding

7.​8.​2 Presurgical Nasoalveolar Molding

7.​8.​3 Cleft Lip Surgery

7.​8.​4 Additional Surgery

7.​8.​5 Secondary Surgery

References

8 Polydactyly

8.​1 Introduction

8.​2 Embryology

8.​3 Classification

8.​4 Polydactyly

8.​4.​1 Classification

8.​4.​2 Patient Evaluation

8.​4.​3 Treatment Option

8.​5 Symphalangism (Synostosis)

8.​6 Triphalangeal Thumb

8.​7 Brachydactyly

8.​8 Kirner’s Deformity

 8.​9 Clinodactyly

8.​10 Camptodactyly

8.​11 Macrodactyly

8.​12 Thumb Hypoplasia

8.​13 Congenital Constriction Band Syndrome

8.​14 Congenial Trigger Thumb

References

9 Syndactyly

9.​1 Introduction

9.​2 Embryology

9.​3 Epidemiology

9.​4 Classification

9.​5 Patient Presentation

9.​6 Treatment/​Surgical Technique

9.​6.​1 Digital Incisions

9.​6.​2 Creation of a Web

9.​6.​3 Lateral Soft Tissue Defects

9.​6.​4 Separation of the Fingertips

9.​7 Postoperative Care

9.​8 Complications

9.​9 Secondary Procedures

 9.​10 Poland’s Syndrome

9.​11 Apert’s Syndrome

References

10 Pigment Lesions

10.​1 Introduction

10.​2 Congenital Melanocytic Nevi

10.​2.​1 Treatment of CMN

10.​3 Acquired Melanocytic Nevi

10.​4 Speckled Lentiginous Nevus

10.​5 Halo Nevus

10.​6 “Café au lait” Macula

10.​7 Congenital Dermal Melanocytosis

10.​8 Spitz Nevus

10.​9 Atypical Melanocytic Nevus

10.​10 Melanoma

References

11 Benign Skin and Soft Tissue Tumors

11.​1 Introduction

11.​2 Developmental Defects

11.​2.​1 Cranial Defects

11.​2.​2 Nasal Defects

 11.​2.​3 Sinus Preauricularis and Accessory Tragus

11.​2.​4 Neck Anomalies

11.​3 Benign Skin Tumors

11.​3.​1 Benign Lesions of Epidermal Origin

11.​3.​2 Benign Lesions of Dermal Origin

11.​3.​3 Benign Soft Tissue Tumors

11.​4 Infective Lesions

11.​4.​1 Hidradenitis Suppurativa

11.​4.​2 Lymphadenopathy

References

12 Malignant Skin and Soft Tissue Tumors

12.​1 Introduction

12.​2 Rhabdomyosarcoma​

12.​3 Infantile Fibrosarcoma

12.​4 Cervical Teratoma

12.​5 Cutaneous Neuroblastoma

12.​6 Dermatofibrosarc​oma Protuberans (DFSP)

12.​7 Synovial Sarcoma

12.​8 Lymphoma

12.​9 Congenital Leukemia Cutis

12.​10 Peripheral Primitive Neuroectodermal Tumor (pPNET)

 12.​11 Langerhans Cell Histiocytosis (LCH)

12.​12 Hemangioendothel​ioma and Tufted Angioma

References

13 Hemangiomas

13.​1 Introduction

13.​2 Epidemiology

13.​3 Pathogenesis

13.​4 Clinical Features

13.​5 Complications

13.​6 Congenital Hemangiomas

13.​7 Syndromes

13.​8 Patient Evaluation

13.​9 Treatment Option

13.​9.​1 Propranolol

13.​9.​2 Corticosteroids

13.​9.​3 Interferons

13.​9.​4 Chemotherapy

13.​9.​5 Surgical Management

13.​9.​6 Laser Therapy

13.​10 Pyogenic Granuloma

References
14 Lymphatic Malformation

14.​1 Introduction

14.​2 Clinical Features

14.​3 Complication (Symptoms) of LMs

14.​4 Patient Evaluation

14.​5 Treatment Option

14.​5.​1 Sclerotherapy

14.​5.​2 Surgery

14.​5.​3 Laser Therapy

14.​5.​4 Pharmacotherapy

14.​6 Lymphedema

References

15 Venous Malformation

15.​1 Introduction

15.​2 Complications (Symptoms) of VM

15.​3 Patient Evaluation

15.​4 Treatment Options

15.​4.​1 Conservative Treatment

15.​4.​2 Sclerotherapy

15.​4.​3 Surgical Excision

15.​4.​4 Laser Ablation

 References

Index
© Springer International Publishing AG 2017
Aleksandar M. Vlahovic and Emir Q. Haxhija, Pediatric and Adolescent Plastic Surgery for the Clinician,
DOI 10.1007/978-3-319-56004-5_1

1. Introduction
Aleksandar M. Vlahovic1 and Emir Q. Haxhija2
(1) Department of Plastic Surgery and Burns, Institute for Mother and Child Health
Care of Republic Serbia, University of Belgrade, New Belgrade, Serbia
(2) Department of Pediatric and Adolescent Surgery, Medical University Graz, Graz,
Austria

The primary goal of this book is to share our experience in field of pediatric plastic
surgery with health practitioners who are involved in primary practice and for all others
who are involved in treatment of these patients.
Some fields of pediatric plastic surgery such as clefs, benign and malignant tumors,
and vascular anomalies are difficult to present in short chapter, or even in one a book,
because of their complexity, especially that they are already described by many other
authors. Our idea was to present most important topics in pediatric plastic surgery
through 14 chapters with general information about the clinical presentation, diagnostic
procedures, treatment options, and complications.
Correction of prominent ears is presented because it is the most commonly
performed aesthetic procedure in pediatric population, performed by different
specialists. Microtia is in opposite extremely difficult to correct, and it is usually
performed in specialized centers by highly experienced surgeons. Treatment of these
patients by inexperienced surgeons can lead to devastating consequences.
Breast anomalies are common in pediatric population, with aesthetic and
reconstructive goals tightly connected. Breast augmentation in pediatric population has
to be performed with high precautions, and these patients are best to treat at the end of
adolescence. There is high variety of breast anomalies and there is no adequate
classification yet. Fortunately breast tumors in pediatric population are mostly benign.
Gynecomastia is the most commonly treated breast anomaly in male pediatric
population and in most cases with minimally invasive procedures.
Cleft patients are probably the most complicated group of patients in pediatric
plastic surgery, and in this field multidisciplinary approach is extremely important, as
well as the long-term follow-up. Hand surgeons are mainly dealing with hand problems
(congenital or acquired), but often pediatric plastic surgeons have to perform surgery,
especially for congenital hand anomalies.
Benign and malignant skin and soft tissue tumors belong to an extremely wide field,
and it is almost impossible to classify them. We point out to the most important and most
common benign and malignant skin and soft tissue tumors in pediatric population.
Pigmented lesions are often seen in pediatric population; fortunately they are in vast
majority benign. Congenital melanocytic nevi are specific for pediatric population, and
along with melanoma they have most attention in our book. Vascular anomalies are not
in general part of aesthetic surgery; however, they are described in this book because of
their high incidence and they often present indication for reconstructive surgery.
Our intention with this book is to bring basic information and to help the medical
caregivers who are dealing with these patients in their everyday practice. We included
figures of author’s patients for almost all entities that are mentioned in the book. We
hope that this book will be of great help to our colleagues and other health practitioners.
© Springer International Publishing AG 2017
Aleksandar M. Vlahovic and Emir Q. Haxhija, Pediatric and Adolescent Plastic Surgery for the Clinician,
DOI 10.1007/978-3-319-56004-5_2

2. Otoplasty
Aleksandar M. Vlahovic1 and Emir Q. Haxhija2
(1) Department of Plastic Surgery and Burns, Institute for Mother and Child Health
Care of Republic Serbia, University of Belgrade, New Belgrade, Serbia
(2) Department of Pediatric and Adolescent Surgery, Medical University Graz, Graz,
Austria

Keywords Auriculae – Children – Pinnaplasty

2.1 Introduction
Surgical correction of prominent ears (otoplasty) is a cosmetic procedure commonly
performed in the pediatric population, mostly by plastic and pediatric surgeons, and
otorhinolaryngologists [1–13]. Children with prominent ears older than 5 or 6 years are
generally complaining of being teased about their ears and usually style their hair to
camouflage their deformity [3, 4, 10].
There is almost unlimited number of procedures for correction of the prominent ear
[1, 5–14]. Parents are often the initiators of the idea for ear correction, and in most
cases they have to bring a decision about the surgical treatment for their children [2].
The understanding between the surgeon, child, and parents has to be well established,
and it is very important that the child cooperates with the surgeon (most surgeons wait
until awareness of the deformity arises) [3, 10, 13]. Psychological aspect of this
procedure and its impact on the child are also extremely important [2–4, 13].
Different terminologies have been used for this deformity: prominent ears, “bat”
ears, apostasis otis, prominauris, etc. [4, 6, 8–13].

2.1.1 Epidemiology
The incidence of prominent ears is different among different population (5% among the
Caucasian population) [11, 13, 14]. Familial history is noted in 8% of those patients,
with males and females equally affected [13, 14].
2.1.2 Embryology
At about 40 days of gestation, the auricle is derived from the mesoderm of the first two
branchial arches (six hillocks of His) [4, 10–12, 15–17]. During the third month of
gestation, the auricle’s protrusion increases, and by the end of the sixth month, helix and
antihelix are nearly completely formed [15]. The auricle is fully shaped at birth,
approximately 85% of auricular growth is finished at 3 years of life and nearly adult
size is achieved by age 5 or 6 years [4, 6, 11, 12, 15]. At 6 years, the ear size values are
nearly the same for both sexes: 34 mm width in boys and girls, 55 mm length in boys
and 54 mm in girls, and 22 mm protrusion in boys and 20 mm in girls [10, 12, 13]. Ear
length is definitive by age of 15 years in boys and by age of 13 years in girls (60–65
mm), and ear width is complete by age 10 in girls and age 13 in boys (35 mm) [10–12].
Otoplasty in children aged 5–8 years has no significant influence on later auricular
growth [4, 12].

2.1.3 Anatomy
The structures that formed the auricle are the helix, the antihelix, the antihelical scapha,
the antihelical crura, the tragus, the antitragus, the cavum conchae, the cymba conchae,
and the lobule (Fig. 2.1) [4, 9–11]. Fibroelastic auricular cartilage is medially covered
by connective tissue and skin and laterally by skin only [4, 12]. The lobule is mainly
composed of adipose and connective tissue [4, 16]. Several intrinsic and extrinsic
muscles and ligaments influence the auricular shape [12]. The arterial supply to the
auricle is derived from the posterior auricular, superficial temporal, and occipital
arteries, and sensory innervation is provided by the auriculotemporal and great
auricular nerve and branches of cranial nerves (CN) VII, IX, and X [11, 12, 15].
Fig. 2.1 Reconstruction of bilateral prominent auricle with suture technique: (a–d) preoperative view; (e–h)
postoperative view

2.2 Psychosocial Aspects

Children have to be well motivated for correction of protruding ears because it can
provoke long-term emotional consequences, and there is also parental responsibility
since they give the consent for their children (if they are in preschool or in early school
age) [2, 3]. The decision about surgery should be based on the needs of the child, not on
pressure from the parents [2–4]. Children usually have better quality of life after
correction of prominent ears, but an operation cannot guarantee that the child will be
happier afterwards, even if the quality of surgical correction is good [1–4, 18].

2.3 Preoperative Evaluation

The precise anamnestic data should be taken (especially about excessive bleeding and
poor wound healing) [1, 4, 12]. If there is a history of previous surgery and
hypertrophic scarring or keloids, surgery has to be performed with maximum
precautions [4, 14]. Both the patient and parents have to be well informed about every
detail of the surgical procedure along with potential risk and complications [4, 6, 19].
The patient has to be intellectually and emotionally mature enough to cooperate [4, 12].
Otoplasty is contraindicated if patient has unrealistic expectations or if the patient is
judged to be noncooperative postoperatively [3, 4, 13]. General anesthesia is
recommended for children under 14 years of age (risks should be explained), and for
teenagers local anesthesia with sedation can also be an option [4, 6, 11].
A careful preoperative examination of the auricles by thirds has to be performed,
and any pre-existing asymmetry should be presented to patients [1, 4, 6, 8, 10, 13].
Cartilage consistency and thickness with the other ear abnormalities and associated
anomalies should be evaluated; preoperative photography has to be obtained (for
evaluation of the ear from the lateral direction, the patient should be in Frankfort
horizontal plane) [4, 6, 8]. Distance between the lateral helical rim and the mastoid
region is usually 17–21 mm, and the angle between mastoid and the auricle is
approximately 30° [4, 6, 11–13, 18, 20].
The most common deformity seen in prominent ears is an underdeveloped (unfurled)
antihelical fold, increased angle between the mastoid and concha (prominent concha),
and protruding earlobe presenting as a single deformity or as a combination [4, 8, 9, 14,
18, 19, 21, 22].

2.4 Treatment Options

The goal of otoplasty is to restore normal anatomic features: however, perfection is
hard to achieve [7, 8, 12, 13]. The decision about the technique that will be used
depends of the deformity of the ears, patient demands, technical equipment, and
surgeon’s experience [2–4, 6, 7, 9–13, 19–21, 23–27].

2.5 Time of Otoplasty

Surgery can be performed as early as 3–6 years (before school age) since 85% of
growth is finished at that time [9, 12, 13, 22]. Mostly, surgery is performed after 5 years
of age [4, 12, 13, 24].

2.6 Techniques of Otoplasty

The basic goals of otoplasty according to Mc Dowell are as follows: all trace of
protrusion of the upper one third of the ear must be corrected; from the front view, the
helix of both ears should be seen beyond the antihelix; the helix should have a smooth
and regular line through; the postauricular sulcus should not be markedly decreased or
distorted; the ear should not be placed too close to the head; and the position of two
ears should match fairly closely—to within 3 mm at any given point [6, 8, 12].
There are between 100 and 200 procedures that have been published for correction
of prominent ears [4–12, 14, 16, 20, 22–27]. Surgical methods can be essentially
divided into pure stitching techniques, pure incision techniques, and combined stitching-
incision techniques (also are divided in cartilage-breaking and cartilage-spearing
techniques) [1, 6, 12, 14, 27]. There has been increasing criticism of cartilage-cutting
techniques [7, 19, 20, 27].

2.6.1 Pure Stitching Techniques

2.6.1.1 Mustardé Technique
This is one of the most widely used techniques to correct the prominent ear [4–6, 8, 11,
12]. Mustardé described an otoplastic technique which is suitable for folding an
antihelical fold [4, 6, 22, 25]. The mattress sutures (nonabsorbable, transparent or
white) are placed using a retroauricular access through the auricular cartilage and the
perichondrium, without penetrating the ventral skin [22, 25]. This technique mainly
addresses the superior third of the ear, it is suitable for soft or thin cartilage, and it can
be combined with a lobulopexy and/or cavum rotation [4, 6, 12, 13, 25].

2.6.1.2 Furnas Technique

Furnas described a technique for overdeveloped conchal bowl and well-formed
antihelical fold [4–6, 10, 12, 27]. Nonabsorbable sutures which penetrate entirely
through both the auricular cartilage and the mastoid periosteum create a lasting
correction of the conchal prominence [5, 6, 10]. It can be also used in conjunction with
Mustardé mattress sutures for correction of antihelical fold underdevelopment [5, 6,
12]. Narrowing of external auditory canal is a complication of this technique described
in literature if the mastoid sutures are placed too anteriorly [6, 12].

2.6.1.3 Horlock, Misra, and Gault Technique

In this technique, the concept of posterior concho-scaphoid and concho-mastoid suturing
is used, with a posterior subcutaneous tissue elevated as a fascial flap in order to
prevent complications of the sutures (Fig. 2.1) [7, 19, 20, 27].

2.6.2 Pure Incision Techniques

2.6.2.1 Chongchet Technique
Chongchet technique is based on Gibson and Davis work (cartilage incision on one side
has the ability to warp to the opposite side) [4, 7, 11, 16]. Weakening of the anterior
auricular cartilage is performed by multiple partial-thickness incisions in order to
restore normal curvature of antihelical fold and soften the external contour of the
corrected prominent ear [4, 7, 16, 18, 20].

2.6.2.2 Stenstrom Technique

The Stenstrom technique is also based on Gibson-Davis principles; the excision of the
skin is performed on the posterior side of the ear, and superficial cartilage scoring is
made by a special instrument on the lateral side of the ear [4, 10, 11, 26]. The author
stated that the technique is adequate for insufficient folding of the antihelix and
excessive cupping of concha [26].

2.6.2.3 Nordzell Technique

This technique is based on the skin incision on the medial side of the ear, entering to the
anterior surface of the cartilage with abrasion of the antihelix and superior crus [11].

2.6.3 Combined Incision-Suture Techniques

Combination of techniques is often performed by surgeons, yet these techniques are
complex to perform [4, 10–12]. There are several combination techniques described in
the literature [4, 6, 10, 12, 13].

2.6.3.1 Converse Technique

This technique is suitable for patients with stiff cartilage [4, 6]. The cartilage incisions
are placed parallel to the helical rim and the base of the antihelix, including a superior
crus, using a retroauricular approach, followed by tubing of the cartilage with
placement of sutures to secure the position [4, 10–12]. This technique is complicated,
and sharp and undesirable edges in antihelical area frequently occur [4].

2.6.3.2 Farrior Technique

This technique may include cartilage scoring for the creation of antihelical fold
(multiple incisions perpendicular to the direction of antihelical fold), suturing, and
conchal setback techniques [6, 12]. Several other procedures may be included
according to local anatomical findings such as longitudinal, partial-thickness wedge
excisions of cartilage, horizontal mattress sutures, trimming of the cauda helicis, and
excision of postauricular elliptical dumbbell skin segment [12].

2.6.3.3 Weerda Technique

By this technique, the auricular cartilage is weakened by diamond drill immediately
above and below the intended new antihelical fold and the antihelical crus, using a
retroauricular access with additional, full-thickness mattress sutures used to fix the
antihelix in the intended position [4].

2.6.4 Lobuloplasty
There are several techniques for correction of protruding lobule, including in most
cases skin excision on medial part of lobule and suture to a posterior part of concha [4,
9–11, 21–23].

2.6.5 Nonsurgical Correction of Protruding Ears

Auricular molding has been reported to be a simple, effective, and inexpensive
treatment for correction of all kinds of congenital auricular deformities [4–8, 11, 12,
28–30]. There are various ear splinting materials and methods [11, 28–30]. Splints can
be easily placed by plastic (pediatric) surgeons, nurses, and parents [24]. Correction is
most effective within first 96 h (cartilage is soft since maternal estrogens are highest in
the first 3 days of birth), and maximum age that splinting should be applied until 3 or 6
months of age [6, 12, 15, 28, 29]. If there is no result after 4 weeks, it should be stopped
[29]. Minimal invasive otoplasty recently has become popular, but long-term data are
not yet available [4].

2.6.6 Complications of Otoplasty

Up to 10% of each of the three categories of otoplasty techniques can result in
complications, and they are well described in the literature [1, 4, 6, 12, 13, 21]. Ear
deformation after primary otoplasty such as overcorrection, undercorrection, visible
cartilage irregularities or unnatural contours, and unpleasing shape of the ear requires
revision surgery [9, 13, 19]. Severe complication requires ear reconstruction with
autologous costal cartilage [1, 14, 18, 19]. Complications can be divided into two
categories: early (within first 14 postoperative days) and late (14 days after surgery) [1,
4, 6, 8, 9, 12–14, 18].

2.6.6.1 Early Complications

Hematoma can occur because of inadequate hemostasis and coagulation disorders (that
were not recognized preoperatively) or if local anesthetic with vasoconstrictor is used,
and it requires prompt reaction (Fig. 2.2a, b) [1, 6, 13, 21]. Infection is rare in
pediatric population, it can be provoked by placing the fingers in the auricle area
because of pruritus, and it usually requires antibiotics with local treatment (Fig. 2.3a–c)
[1, 4, 6]. Pressure ulcers can occur on the skin of the auricle and on the ear cartilage as
a result of pressure necrosis if the head bandages are too closely fitting [1, 13, 21].
Asymmetry of auricles in comparison with the sides in early postoperative period is
usually iatrogenic [1, 13].

Fig. 2.2 Hematoma on both ears after otoplasty as the result of coagulation disorder revealed after the surgery: (a)
left ear; (b) right ear
Fig. 2.3 Ear necrosis (child scratches the ear): (a) preoperative view; (b) necrectomy performed; (c) postoperative
view

2.6.6.2 Late Complications

Recurrence is the most common complication observed following otoplasty, and it
occurs frequently with incision techniques [1, 4, 6, 12–14]. Suture complications, such
as protrusion through the posterior skin (fistulae), are quite common, and the stitching
material should be completely removed [1, 4, 6, 8, 9, 13]. Telephone ear occurs if
overcorrection of the middle part of the ear is performed with the protrusion of the
upper part of the helix and of the earlobe (Fig. 2.4) [1, 8, 9, 13]. Excessive edge
formations usually occur with pure cutting techniques, and it can be corrected by
careful abrasion of the cartilage (Fig. 2.5) [1, 10, 14]. Overcorrection (mostly occurs
because of excessive excision of retroauricular skin) can be corrected by using free
full-thickness skin graft or conchal cartilage grafting, and undercorrection is usually
corrected by suture revision and conchal reduction (Fig. 2.6a–f) [1, 9, 12, 14, 19, 21]. A
hypertrophic scar and keloid formation are late complication of otoplasty, and there are
several treatment options, including local injection of triamcinolon and excision (Fig.
2.7a, b) [1, 2, 12–14, 21].

Fig. 2.4 Overcorrection of the middle third of the ear: “telephone ear” deformity as a complication of the otoplasty
Fig. 2.5 Excessive ear edges as a complication after otoplasty
Fig. 2.6 Overcorrection of both ears caused by excessive skin excision: (a–d) preoperative view; (e, f) postoperative
result after reconstruction with skin grafts

Fig. 2.7 Ear keloid: (a) appearance after previous otoplasty and three excisions of hypertrophic scars in other
institutions; (b) 4 years after our reconstruction

2.7 Postoperative Care

The concavities of the ear are packed with cotton to maintain positioning and correct
healing [4, 6]. The purpose of the dressing is to protect the repair and it should be
retaining bandage [1, 9]. For pediatric patients the first dressing is performed on the
first or second postoperative day to evaluate any early complication [1, 4].
Standard head bandage is usually recommended for 4–5 or 7–8 days after the
procedure [1, 8, 18, 20]. If nonabsorbable sutures are used, they are removed after the
seventh postoperative day, and a forehead bandage worn at night for 6 weeks is
recommended [4, 9, 20]. Sustaining of physical activities is also recommended.

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© Springer International Publishing AG 2017
Aleksandar M. Vlahovic and Emir Q. Haxhija, Pediatric and Adolescent Plastic Surgery for the Clinician,
DOI 10.1007/978-3-319-56004-5_3

3. Microtia and Other Congenital Auricular

Deformities
Aleksandar M. Vlahovic1 and Emir Q. Haxhija2
(1) Department of Plastic Surgery and Burns, Institute for Mother and Child Health
Care of Republic Serbia, University of Belgrade, New Belgrade, Serbia
(2) Department of Pediatric and Adolescent Surgery, Medical University Graz, Graz,
Austria

Keywords Microtia – Correction – Children

3.1 Introduction
A child with malformed ear often attracts attention from curious playmates (usually at 4
or 5 years of age when body image relating to face develops), and very often the child
faces rejection, teasing, and name-calling [1, 2]. Early surgery for the deformity is
desirable for the child psyche, but it is in vast majority of cases technically impractical
[1].
Ear deformities can be classified into anotia, complete hypoplasia or microtia
(with or without atresia of external auditory canal), hypoplasia of middle third of the
auricle, hypoplasia of superior third of the auricle (constricted ear, cryptotia,
hypoplasia of entire superior third), and prominent ear [1, 3]. Other ear anomalies also
occur with variable incidence and different treatment options [1, 3–9].

3.2 Embryology
The auricle, the auditory canal, and the middle ear originate from the first and second
branchial arches [1]. At the end of the fifth and the beginning of the sixth embryonic
week, mesenchymal proliferation of the first and second branchial arches develops six
surface irregularities (hillocks) which fuse into the definitive ear [1, 4]. In case of
incomplete fusion, malformation of the external and/or middle ear can occur [1, 3, 4].
External and middle ear has same embryonic origin (microtia is accompanying with
anomalies of middle ear), and the inner ear is almost always normal in patients with
microtia since it has different embryonic development [3]. The hearing loss in
microtia/atresia is conductive in nature [1, 3, 6].

3.3 Anatomy
The structures that formed the auricle are helix, the antihelix, the antihelical scapha, the
antihelial crura, the tragus, the antitragus, the cavum conchae, the cymba conchae, and
the lobule [3, 7–9]. Fibroelastic auricular cartilage is medially covered by the
connective tissue and skin and laterally covered by skin only, and the lobule itself is
mainly composed of adipose and connective tissue [3].

3.4 Microtia
Microtia is severe hypoplasia of external ear with variable deformation of auditory
canal [1–4, 7, 8, 10–18].
The incidence of microtia is between 1 in 6000 and 8000 live births [2, 8, 12]. The
incidence is low among Caucasians and it’s high in Japanese and among American
Indians [1, 8, 15]. Microtia is unilateral in vast majority of cases (80–90%); the right
side is involved more often than the left, and boys are affected more often than girls [1,
2, 7, 8].
Microtia is probably multifactorial in etiology with environmental and genetic
factors involved, and it counts as a part of the spectrum of hemifacial microsomia
deformities (maldevelopment in the first and second branchial arches) [1, 7, 12].
Microtia can be associated with other deformities such as facial skeletal asymmetries,
facial nerve paralysis, cleft lip and palate, cardiac anomalies, and urinary tract
anomalies [1, 3, 7, 8, 15].
Gilles is credited with the first use of rib cartilage for construction of an auricular
framework in 1920, and Tanzer reintroduced the technique of autogenous costal
cartilage grafts as a method of auricular reconstruction in 1959 [2, 11, 12]. Brent and
Nagata techniques are most widely used for auricular reconstruction, followed by
Firmin, Park, and Siegert modifications of these techniques [1, 3, 7, 8, 12, 13, 15–17].
Patients with unilateral microtia/atresia usually have normal hearing on the
contralateral ear, and hearing rehabilitation in these patients can include observation,
band-retained bone conduction sound processor, osseointegrated implant-retained bone
conduction sound processor (after 5 years of age), and atresiaplasty [1, 3, 6–8, 15].
Patients with bilateral microtia/atresia usually have serviceable hearing, and these
patients should be fitted with a bone-conduction hearing aid as early as possible in life
[1, 3, 6–8, 15]. Computerized tomography (CT) of temporal bone has to be performed at
about 4 years of age prior to surgical treatment [15].
Canal construction (atresiaplasty) and tympanoplasty in children with microtia
should be performed only in cases with hearing loss in the contralateral ear or in cases
of bilateral microtia, and it is performed in most cases after the microtia reconstruction
[1, 7, 15]. Recently some authors proposed that atresiaplasty can be performed before
or simultaneously with the microtia reconstruction [15].

3.4.1 Classification
The microtia deformity itself is enormously variable [3]. The most common variety of
microtia involves an irregular cartilage remnant with an associated small vertical
earlobe with absent auditory canal [1, 3, 4, 8]. There are several classification of
microtia derived from any authors: Nagata, Brent, Fukuda, Muerman-Marks, Asse,
Firmin, and Marx (Rogers modification) [1, 3, 8, 12, 15].
According to Nagata classification, there are five types of microtia: lobule type (the
patient has an ear remnant and malpositioned lobule but has no concha, acoustic meatus,
or tragus), concha type (the patient presents with ear remnant, malpositioned earlobe,
concha, tragus, and antitragus with an incisura antitragica), small concha type (the
patient presents with an ear remnant, malpositioned earlobe, and a small indentation
instead of concha), anotia (the patient is present with no, or only a minute, ear remnant),
and atypical microtia (the patient presents with deformities that do not fit into any of the
above categories) (Fig. 3.1a–d) [1, 7, 8, 12, 15]. There is a four-grade classification
proposed by Marx (modified by Rogers), detailed classification of microtia proposed
by Firmin, and also a classification of hemifacial microsomia associated with microtia
proposed by Mulliken et al., named OMENS (Orbital asymmetry, Mandibular
hypoplasia, Ear deformity, Nerve involvement, Soft tissue deficiency) [7, 11, 15].
Fig. 3.1 Different types of microtia: (a) lobule type; (b) anotia; (c, d) atypical microtia

3.4.2 Patient Evaluation

These patients are usually seen within the first 12 months of age, and parents are
instructed to return annually until the age for surgery [8]. The recommended age for
surgery is at least 6 years, and in most cases, it is around 10 years of age [6, 8, 15].
Alloplastic reconstruction is possible from 3 years of age [15]. Preoperative
photographs are obtained, and normal ear side is evaluated (position and anatomy of
normal ear), since it is the model for opposite side [1, 3, 7, 8, 14, 15]. At opposite side
with microtia, we examine the skin quality, presence of external auditory canal, hair line
position, and scar presence [7, 8, 14]. During the exam, the chest wall has to be checked
in every detail, and we need to establish any deformity that may complicate chondral
graft taking [1, 3, 7, 11, 15]. Treatment options should be discussed with the patient and
parents [3, 8, 15].

3.4.3 Surgical Reconstruction

Indications for surgical treatment are aesthetic, functional, and psychosocial [15].
Reconstruction of the architectural structure of the auricle and the projection of auricle
are two important topics in this surgery [1–3, 6–8, 10–15]. There are three options for
auricular reconstruction of microtia: autogenous reconstruction, composite
autogenous/alloplastic reconstruction (using an alloplastic ear framework), and
prosthetic reconstruction [1–4, 6–8, 10–18]. Reconstructed ear in the long term is
usually more bulky with lack of the flexibility of the normal ear [7].

3.4.3.1 Autogenous Reconstruction

This is the most widely used approach [1–3, 7, 8, 11, 13, 15, 17]. Two techniques for
autogenous reconstruction of the auricle, using a rib cartilage framework, described by
Brent and Nagata were dominant for a long period of time [1, 3, 7, 8, 12]. Firmin
adopted Nagata’s two-stage approach and modified it, and Park used a three-stage
procedure for patients with microtia, with tissue expansion during the first stage [7,
11–13, 18]. Siegert and colleagues also described a technique for microtia
reconstruction [15]. The Brent technique involves four stages: creation and placement of
a rib cartilage auricular framework, rotation of malpositioned ear lobule into the correct
position, elevation of the reconstructed auricle, and deepening of the concha with
creation of the tragus [3, 7]. The Nagata technique encompasses two stages [3, 8, 15].
The first stage is performed not earlier than 10 years of age (chest circumference at the
level of the xiphoid has to be at least 60 cm) [8, 12]. In the first stage, creation of costal
cartilage framework is performed, including the rotation of the lobule into the correct
position [7, 8, 12, 15]. The second stage involves elevation of the reconstructed ear and
creation of retroauricular sulcus [7, 8, 12, 15, 18].

3.4.3.2 Preoperative Marking

The location of the earlobe on the normal side is transferred to the affected side
(reconstructed ear has to be in symmetrical position with unaffected ear) [7, 8, 14]. The
normal ear is traced on the x-ray film, thin plastic film, or paper pattern and sterilized,
and by using these tracing, a template of the desired framework is fashioned, it’s
reversed, and framework pattern is designed for the new ear [3, 7, 8, 14, 15]. An
acrylic or plaster replica of normal ear can also be used (Fig. 3.2a–c) [3]. The exact
location and orientation of the desired auricle are drawn on the patient [3, 7, 8, 11].
Different incisions on the skin are made depending on the technique that is used;
cartilage remnant is removed preserving the skin, and the pocket is dissected beyond the
outline of the eventual auricle [3, 7, 8, 11, 13, 15–18].

Fig. 3.2 Preoperative marking: (a) normal ear; (b) contralateral ear deformity; (c) normal ear traced on a plastic film

3.4.3.3 Chest
Incision on the chest can be transverse or oblique, allowing access to the fifth to ninth
ribs [1–3, 7, 8, 12–18]. The cartilage can be harvested in subperichondrial plane or
with perichondrium, leaving the posterior perichondrium intact [7, 10, 12]. For Brent
technique, synchondrosis of the sixth to seventh rib is taken as well as a free part of the
eighth rib for the helical rim, and in Nagata technique, three more pieces of cartilage
have to be taken: for antihelix/triangular fossa, a piece for tragus/antitragus and a piece
to be banked for the second stage [3, 7, 10]. The donor area is closed by primary suture
with excess cartilage placed superficially to rectus muscle [7, 13, 15].

3.4.3.4 3D Graft Fabrication

Different numbers of pieces are needed, and that depends on the technique that is used,
and details are spliced together by using nylon or wire sutures [1–3, 7, 8, 11, 15–18].
The antihelix/triangular fossa piece is attached, followed by the helical rim in a similar
way in both techniques and finally the tragus/antitragus piece in Nagata technique [3, 7,
8, 15]. The framework is inserted into the pocket [1–3, 7, 8, 10–18]. Once the closure
has been accomplished, the auricular convolutes are packed with Xeroform bolster or
with Vaseline gauze over the skin and into cavities, bulky noncompressive dressing is
applied, and closed suction drains are used [1–3, 7, 8, 12, 15, 16]. Tubes are frequently
changed (to provide skin coaptation and hemostasis) and removed after there is no
drainage (usually after 5 days) [3, 7, 10, 15]. A piece of cartilage is banked in the chest
or in the scalp region [3, 7, 15].
Firmin created the framework with at least six different pieces: the base, the
antihelix, the helix, the tragus and antitragus, the projection piece, and a spare piece
stored under thoracic skin to reconstruct the posterior wall of the concha during the
second stage [11, 13]. Firmin et al. distinguish three types of microtia concerning
carving of the framework: (1) microtia without tragus; (2) microtia with tragus, but
without antitragus; and (3) microtia with a good tragus-antitragus complex [11]. Authors
have been adding a piece of cartilage deep to the root of the helix and the tragus,
bridging the two improving 3D contour, and they also devised an algorithm to manage
the skin remnants depending on skin potential [11, 13, 18]. Park technique is consisted
of two or three stages [12, 16–18]. In the first stage, tissue expander is inserted in the
mastoid region, and after the expansion is completed, the second stage is performed
with cartilage frame harvesting from the contralateral rib followed by placement of
framework into position [12, 16, 18]. In some cases, the third stage is performed for
additional shaping of framework [12, 16].

3.4.3.5 Elevation of Framework

The elevation of framework is performed at least 6 months after grafting [10, 11]. This
is the second stage in Nagata technique and the third stage in Brent technique [3, 7, 8,
12, 15, 18]. The framework is elevated, and the retroauricular sulcus is resurfaced with
retroauricular scalp and full-thickness graft [1–3, 7, 8, 11, 15, 16, 18]. Nagata adds a
piece of rib cartilage covered with the temporoparietal flap, while Brent and Firmin use
turnover “book flap” of occipitalis fascia to cover this wedge of rib cartilage [3, 7, 8,
11, 13, 15, 17, 18]. Hydroxyapatite can be used as an alternative to cartilage to sustain
the angle of elevated concha [10]. For the second stage, when small amount of
projection is needed, Firmin used advancement of retroauricular skin with split
thickness skin graft (STSG) from the scalp, for moderate projection piece of cartilage
into tunnel behind the framework, and for reconstruction of entire posterior wall,
modified Nagata technique is used [11]. After elevation of the framework and placing
skin graft, sutures are tied over a bolster for a tamponade [1, 3, 7, 8, 15].

3.4.3.6 Rotation of Lobule

The rotation of lobule has to be done from vertical to horizontal position, and in Nagata
and Firmin techniques, it is performed at the first stage and in Brent technique during the
second stage [3, 7, 8, 11, 12, 15, 18].

3.4.3.7 Brent Technique 4 Stadium: Creation of Tragus

Conchal composite graft is taken from the posterior conchal wall of the contralateral
ear, and through L incision, insertion of graft is performed [3, 7]. Conchal excavation
and contralateral otoplasty can be performed during this stage [3].

3.4.4 Complications
Cartilage exposure, infection, and skin necrosis are the most often complications [2, 3,
7, 15]. Antibiotic is applied locally along with systemic therapy [3, 12, 15]. In case of
exposition of the cartilage framework, an exposed area is more than 1 cm, and urgent
covering with temporoparietal flap and skin graft is required [3, 7]. Nylon and wire
sutures may become visible [3, 7]. Distortions due to the frame, contracture of conchal
cavity, and displacement of helical cartilage are complications described in the
literature [2, 15]. The most common acute complications related to obtaining a cartilage
graft are pneumothorax and atelectasis, and late complications include unsatisfactory
scars and chest contour deformities [3, 19].

3.4.5 Composite Autogenous/Alloplastic Reconstruction

An auricular framework composed of high-density porous polyethylene is used as an
alternative option to costal cartilage [7, 12, 15, 17, 20, 21]. Ear reconstruction can be
completed in one stage, and it can be done before the school age [12, 15]. There is a
high rate of frame exposition, but if temporoparietal flap for covering the framework is
used, complications are less common [7, 12, 15, 17].
3.4.6 Prosthetic Reconstruction
The ear prosthesis (epithesis) is an alternative to plastic surgery [7, 12, 15, 17]. The
retention of prosthesis is achieved by osseointegration using titanium implants to
integrate prosthesis into living bone [7, 12]. Children are poor candidates for
prostheses (they need to maintain adequate hygiene, and the daily removal and the
replacement of the prosthesis serve as a constant remainder of the deformity) [7, 12,
15]. Prostheses have to be changed in approximately every 5 years which is more
expensive in the long term than autogenous reconstruction [12, 15]. Tissue engineering
is the future option for construction of precisely shaped cartilage implant without donor
site morbidity [17].

3.5 Constricted Ear

The constricted ear (known as cup or lop ear canoe ear, cockle shell ear) is a congenital
ear deformity of variable severity characterized in all types by lidding of the helix and
compression of narrowing of the scapha and fossa triangularis and with protrusion of
the ear and low ear position in moderate and severe cases (Fig. 3.3a–c) [1, 3, 5, 7,
22–24]. Most cases occur sporadically [22]. Tanzer coined the term “constricted ear” to
minimize the confusion of a multitude of descriptive terms and categorized the
constricted ear into three groups [1, 3, 22, 23]. Park divided the constricted ear into
four graded types with different surgical approaches depending on the constricted ear
type [21]. There are several surgical procedures described for the correction of this
abnormality [1, 3, 5, 7, 22–24]. The repair must be individualized for each patient;
however, they all have to include the lengthening of the helix [3–5, 7]. In group I
(minimal height discrepancy), there is involvement of helix and scapha, and they are
amenable to refashioning of cartilage lidding and placement of modified Mustardé
sutures [1, 22]. In group II, there is involvement of helix and scapha [1, 23]. For IIa
deformity shaping of cartilage is required without skin supplement, and IIb deformity
has to be corrected by cartilage maneuvers (banner flap) and in most cases with
importation of skin [1, 3, 22, 23]. Extreme cupping deformity (type III) with height
deficiency of 1.5 cm requires a major auricular reconstruction using a costal cartilage
framework (similar to microtia) [1, 3, 5, 21, 22]. A major problem of surgical
correction of moderately severe constricted ears is recurrence of cupping of the upper
ear [5, 21, 22].
Fig. 3.3 Constricted ear: (a) minor case; (b) moderate case; (c) severe case

3.6 Cryptotia
In cryptotia, the cephaloauricular sulcus is obliterated, and the superior pole of ear is
hidden beneath the temporal scalp [1, 3, 7, 25]. Cryptotia is uncommon in Western
countries, and the incidence is high in Orientals (in Japan 1:400 births) [1, 25]. Hirose
stated that contraction of intrinsic auricular muscles in the neonatal period is
responsible for cryptotia [1]. Nonsurgical treatment methods include splinting of the ear
in children younger than 6 months [3]. There are several surgical techniques for
correction of cryptotia including skin grafts and different flaps (Z plasties, V-Y
advancement flaps, rotation flaps, and when there is lack of cartilage, additional
techniques are used) [1, 3, 7, 25].
3.7 Stahl’s Ear
Stahl’s ear is characterized by abnormal bar of cartilage (third crus), running from the
inferior crus (antihelix) to the upper pole of helical rim (Fig. 3.4a, b) [1, 7, 26, 27].
There is a high incidence among Asian people, near 20% is bilateral, and the male-
female ratio is equal, as the left-right ratio [1]. There are a large number of techniques
proposed for surgical correction of this deformity, but in general, treatment is very
difficult [26, 27]. A “Z” plasty of the third crus alone may be effective for mild cases
[1]. For more severe cases, there are several options such as excision of the third crus
with mattress sutures in the antihelix, augmentation of the deficient superior crus with
excised piece of cartilage, and technique with periosteal sling, and there is a technique
with remodulation of auricular cartilage which is previously returned to amorphous
state [7, 26, 27].

Fig. 3.4 Stahl ear: (a) lateral view; (b) oblique view

References
1. Furnas DW. External ear. In: Jurkiewitz MJ, Krizek TJ, Mathes SJ, Ariyan S, editors. Plastic surgery. Principles
and practice. St Louis: Mosby; 1990. p. 171–206.

2. Tanzer RC. Microtia. Clin Plast Surg. 1978;5(3):317–36.

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3. Brent B. Reconstruction of the ear. In: Neligen PC, Grotting JC, editors. Plastic surgery. St Louis:
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5. Al-Qattan MM. An alternative approach for correction of constricted ears of moderate severity. Br J Plast Surg.
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6. Fukuda O. The microtic ear: survey of 180 cases in 10 years. Plast Reconstr Surg. 1974;53(4):458–63.
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7. Thorne CH, Wilkes G. Ear deformities, otoplasty, and ear reconstruction. Plast Reconstr Surg. 2012;129(4):701e–
16e.
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8. Nagata S. Microtia: auricular reconstruction. In: Achauer BM, Eriksson E, Guyuron B, Coleman III JJ, Russell
RC, Craig A, Kolk V, editors. Plastic surgery, indications, operations, and outcomes. St Louis: Mosby; 2000. p.
1023–54.

9. Matsuo K, Hirose T, Tomono T, Iwasawa M, Katohda S, Takahashi N, Koh B. Nonsurgical correction of

congenital auricular deformities in the early neonate: a preliminary report. Plast Reconstr Surg. 1984;73(1):38–51.
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10. Tai Y, Tanaka S, Fukushima J, Kizuka Y, Kiyokawa K. Refinements in the elevation of reconstructed auricles in
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11. Firmin F, Marchac A. A novel algorithm for autologous ear reconstruction. Semin Plast Surg. 2011;25(4):257–64.
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12. Baluch N, Nagata S, Park C, Wilkes GH, Reinisch J, et al. Auricular reconstruction for microtia: a review of
available methods. Plast Surg (Oakv). 2014;22(1):39–43.

13. Siegert R, Weerda H, Magritz R. Basic techniques in autogenous microtia repair. Facial Plast Surg.
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14. Converse JM. Construction of the auricle in congenital microtia. Plast Reconstr Surg. 1963;32:425–38.
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15. Bly RA, Bhrany AD, Murakami CS, Sie KC. Microtia reconstruction. Facial Plast Surg Clin North Am.
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23. Kim YS, Chung S. A simplified method for correcting Tanzer’s group II constricted ears: construction of the
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24. Park C, Park JY. Classification and algorithmic management of constricted ears: a 22-year experience. Plast
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© Springer International Publishing AG 2017
Aleksandar M. Vlahovic and Emir Q. Haxhija, Pediatric and Adolescent Plastic Surgery for the Clinician,
DOI 10.1007/978-3-319-56004-5_4

4. Breast Augmentation in Children

Aleksandar M. Vlahovic1 and Emir Q. Haxhija2
(1) Department of Plastic Surgery and Burns, Institute for Mother and Child Health
Care of Republic Serbia, University of Belgrade, New Belgrade, Serbia
(2) Department of Pediatric and Adolescent Surgery, Medical University Graz, Graz,
Austria

Keywords Breast – Children – Augmentation

4.1 Introduction
Breast augmentation is the most popular cosmetic surgery procedure performed
worldwide [1–5]. Teenage patients may account for up to 4% of breast augmentation [6,
7]. Breast surgery for cosmetic reasons is not commonly performed on patients under 18
years of age, and it should be performed only after careful discussion with the patient
and family [6].

4.2 Embryology
Breast begins to form at 5–7 weeks of fetal development as a bilateral thickening of the
ectoderm (mamillary line) which extends from the axilla to the groin and involutes
shortly after forming [8–10]. The limited portion in the thoracic region of the embryo
remains (at the level of the fourth intercostal space) and forms the basis for
development of the neonatal breast [8–11]. The connective tissue of breast is derived
from the mesoderm [10]. During normal development, the breasts remain quiescent until
puberty (grows at the same rate as the body), and the growth begins usually at an
average age of 11 years (8–13 years) [6, 8, 9]. Breast development (five stages by
Tanner) is generally completed by 16 to 18 years of age [3, 6, 8, 11].
4.3 Breast Anatomy
In adults, breasts are in position between the second and third and seventh and eighth
rib; medially there is sternal edge and laterally midaxillary line [9, 10]. The portion of
breast that projects into the axilla is termed the tail of Spence [9]. The nipple is
normally located over IV intercostal space, laterally from the midclavicular line [1–3,
9, 10]. Beside the skin and subcutaneous tissue, the breast is made up of
parenchymatous and stromal tissue [3, 9, 10].
The breast is supplied by a vascular network consisting of the internal mammary,
lateral thoracic, intercostals arteries, subscapular, and thoracodorsal arteries [1, 3, 9,
10]. Sensory innervation has three major nerve distributions (anterolateral intercostals,
medial intercostals, and the cervical plexus) [1, 3, 9, 10]. Multiple groups of lymphatics
drain the breast, and it is parallel with venous drainage [9, 10].

4.4 Patient Evaluation

Psychological and developmental characteristics of each patient have to be evaluated
[3, 5, 6]. A careful medical history (earlier breast problems, breast Ca, allergic
reactions) and physical examination (chest wall deformity, spinal curvature, asymmetry
of breast size, nipple and inframammary fold (IMF) position) has to be performed for
each patient [1–5]. Indications for augmentation mammaplasty in pediatric population
are breast hypoplasia (unilateral and bilateral), breast deformity as a part of Poland’s
syndrome, tuberous breasts, and failure of breast development due to a trauma [8, 11,
12]. Cosmetic indications are extremely rare [6].
Preoperative markings are made with the patient in the upright position, using the
IMF, the nipple areola complex (NAC), and the suprasternal notch as key landmarks [2,
4]. The breast width (BW), the breast height (BH), the distance from the NAC to the
inframammary fold, the distance from the suprasternal notch (SSN) to the NAC, and the
intermammary distance (IMD) have to be measured [2].
Both the patient and the parents have to be informed about the risks, benefits, and
treatment alternatives [1–3]. Pediatric patients in most cases want to have natural
appearance of the breasts [6–8, 12].

4.5 Implant Selection

There are two implant materials: saline- and silicone-filled implants [1, 2, 4, 5, 13].
Implants are round and anatomical, with wide variety in width, height, and projection
[2, 4, 5, 13]. Essentially there are two types of round implant shell: smooth and textured
[2, 4, 5]. Anatomic implants are all textured by design (to minimize malrotation) [2, 5].
4.6 Treatment Option
Breast augmentation in pediatric population can be performed for either unilateral or
bilateral deformity, and basic approach is similar to adults [1–6, 8, 12]. There are four
distinct variables requiring decision in the preoperative process: implant type, implant
size, incision location, and pocket plane [1–5, 14]. Three types of incision are
commonly employed in breast augmentation, transaxillary, inframammary, and
periareolar, and each approach has its own advantages and disadvantages [1–5, 14].
Transumbilical approach is only possible with empty implants that are inflated [2, 4, 5,
14].
The inframammary approach is most popular since it permits complete visualization
of the implant pocket (for both subglandular and subpectoral plane), and it allows any
type of secondary surgery (Fig. 4.1a–e) [1–5, 14]. The incision should be placed in the
predicted location of the new inframammary fold, mostly lateral to the breast midline
[1, 2, 4]. For patients with significant hypoplasia, placement of the incision can be
difficult (Fig. 4.2a–d) [4].
Fig. 4.1 Bilateral augmentation of the breast: (a, b) preoperative markings; (c) implant placement; (d, e)
postoperative result
Fig. 4.2 Bilateral augmentation of the breast: (a, b) preoperatively; (c, d) postoperatively

In periareolar approach, the incision is placed along the inferior portion of the
areolar-cutaneous juncture [2, 4, 14]. The scar is well hidden, but there are
disadvantages such as limited exposure of the surgical field, transaction of the
parenchymal ducts, and potentially increased risk of nipple sensitivity changes [1–4,
14].
The transaxillary approach avoids scarring on the breast [2, 4, 5, 14]. The
advantage of this approach is avoidance of injury of breast parenchyma, and
disadvantages are difficulty to control hemorrhage (additional inframammary or
periareolar incision is needed) and lack of control during surgery with high revision
rate [1, 4, 14]. Transumbilical approach can be used only with saline implants, and this
approach has not gained wider acceptance especially in pediatric population [1, 2, 4, 5,
11, 14].

4.7 Implant Type

There are two basic implant configurations—round and anatomical [2, 4, 5, 13]. The
typical round-shaped breast implant has its greatest projection centrally, and
anatomically shaped breast implants have the majority of the projection in the lower
pole (Fig. 4.3a, b) [4, 5, 13]. Anatomical implants may be better for narrow breast
width, small breast volume with minimal ptosis, noticeable asymmetry, and thoracic
prominence, while round implants suit those with relative upper pole deficit, moderate
pseudoptosis, and mild asymmetry [2, 4, 5, 13].

Fig. 4.3 Bilateral augmentation of the breast in a patient with Mayer-Rokitansky syndrome: (a) preoperative view;
(b) postoperative view

4.8 Implant Placement

The implant placement sites are subglandular, submuscular, and subpectoral (dual
plane) [1, 2, 4, 5, 14]. Placement of the implant in subglandular plane works best when
there is adequate soft tissue coverage for the implant; however, there is a higher
incidence of capsular contracture following this position of implant [3, 4]. When
implant is placed in subpectoral pocket, it is covered by muscle in the upper pole and
with glandular tissue in the lower pole [2–5]. The dual plane augmentation has
developed as variation of the subpectoral plane augmentation [4, 5]. The origin of the
pectoralis major muscle (PMM) is divided just above the inframammary fold, and the
pectoralis muscle is retracted superiorly, which allowed better projection in the lower
pole of the augmented breast [2, 4, 5, 14]. The difference between dual plane and
subpectoral approach is that in dual plane approach, there is a possibility of
subglandular dissection above the inferior border of PMM superiorly [2, 4, 5]. Exact
implant “sizers” (gel or saline) are used when available to evaluate the pockets and
resultant breast form, the pocket is irrigated with an antibiotic-containing solution, the
implants are carefully placed, and multilayer closure is performed [1–3, 5]. Total
submuscular and subfascial plane also exists, but they are not used as often as the
previously described methods [4, 5]. Lipoaugmentation of the breast is new and also an
effective method for breast reconstruction that can be also used in pediatric population
[15–17].

4.9 Postoperative Care

Pediatric patients are usually hospitalized, with analgetics and a 3-day course of
prophylactic intravenous antibiotics followed by 5 days of peroral antibiotics [2].
Sports or surgical bra is recommended for 6 weeks after surgery, with early movement
to allow stretching of PMM (to prevent contraction) [2, 10]. Breast massage is
indicated twice daily for 10–15 min for 6 months [4, 5]. Rigorous exercise is not
permitted for 6 weeks, and additional follow-up visits are scheduled at 1, 3, 6, and 12
months (Fig. 4.4a, b) [2, 4].
Fig. 4.4 Long-term follow-up of the breast augmentation: (a) preoperative view; (b) 8 years postoperatively

4.10 Complications
Besides capsular contracture as a complication of breast augmentation, hypertrophic
scarring, infection, hematoma, and seroma may also occur [1, 5]. Capsular contracture
is a common complication reported after breast enlargement (Fig. 4.5a, b) [1–3, 5, 15].
Baker’s classification includes four degrees of capsular contracture, ranging from grade
1 contracture for near-normal breast to grade 4 for severely changed breast [1, 2, 18].
Women with Baker grade 3 or 4 capsular contracture often require treatment, including
open capsulotomy or capsulectomy, and repositioning of the implant in a dual plane [1,
2]. Currently, there is no scientific evidence that silicone is a mutagen or teratogen, and
implants do not interfere with lactation [1, 13].
Fig. 4.5 Capsular contracture: (a) preoperative view; (b) excised capsule and prosthesis

Sensory changes occur in 10% of women (most often after subglandular placement
of prosthesis), manifested as either anesthesia or hyperesthesia of nipple, and they are
transitory in 85% of cases [2, 3]. Hematoma as complication is usually seen in the first
24 h after surgery, and in most cases, immediate evacuation of the hematoma and
exploration of the pocket is recommended [1–3]. Infection occurs in 2–4% of cases
(Staphylococcus aureus and Staphylococcus epidermidis are most common causes),
and if the there is no response to oral or intravenous antibiotics, the implant should be
removed [1–3].
Implant rupture may be intra- or extracapsular, and magnetic resonance imaging
(MRI) of the breast is considered the state-of-the-art technique for evaluating breast
implant integrity [2, 10, 13]. Any defect in the silicone elastomer shell of a saline-filled
breast implant will ultimately result in deflation of the implant [2]. Scars are most
visible with inframammary incision [1–3].

References
1. Slavin SA, Greene AK. Augmentation mammoplasty and its complications. In: Thorne CH, Beasley RW, Aston SJ,
Bartlett SP, Gurtner GC, Spear SL, editors. Grabb and Smith’s plastic surgery. Philadelphia: Lippincott Williams &
Wilkins; 2007. p. 575–620.
2. Maxwell GP, Gabriel A. Breast augmentation. In: Neligen PC, Grotting JC, editors. Plastic surgery. Principles and
practice, vol. 5. St Louis: Elsevier; 2013. p. 15–38.

3. Bostwick III J. Breast augmentation, reduction, and mastopexy. In: Jurkiewitz MJ, Krizek TJ, Mathes SJ, Ariyan
S, editors. Plastic surgery. Principles and practice. St Louis: Mosby; 1990. p. 1063–93.

4. Spear SL, Bulan EJ, Venturi ML. Breast augmentation. Plast Reconstr Surg. 2006;118(7 Suppl):188S–96S.
[CrossRef][PubMed]

5. Adams Jr WP, Mallucci P. Breast augmentation. Plast Reconstr Surg. 2012;130(4):597e–611e.

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6. Larson K, Gosain AK. Cosmetic surgery in adolescent patient. Plast Reconstr Surg. 2011;129(1):135e–41e.
[CrossRef]

7. Rohrich RJ, Cunningham BL, Jewell ML, Spear SL. Teenage breast augmentation: validating outcome data and
statistics in plastic surgery. Plast Reconstr Surg. 2005;115(3):943–4.
[CrossRef][PubMed]

8. van Aalst JA, Phillips JD, Sadove AM. Pediatric chest wall and breast deformities. Plast Reconstr Surg.
2009;124(1 Suppl):38e–49e.
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9. Latham K, Fernandez S, Iteld L, Panthaki Z, Armstrong MB, Thaller S. Pediatric breast deformity. J Craniofac
Surg. 2006;17(3):454–67.
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10. De la Torre J, Davis M. Anatomy for plastic surgery of the breast. In: Neligen PC, Grotting JC, editors. Plastic
surgery. Principles and practice, vol. 5. St Louis: Elsevier; 2013. p. 44–56.

11. Ribas JMM. Breast problems and diseases in puberty. Best Pract Res Clin Obstet Gynaecol. 2010;24:223–42.
[CrossRef]

12. Sadove AM, van Aalst JA. Congenital and acquired pediatric breast anomalies: a review of 20 years’ experience.
Plast Reconstr Surg. 2005;115(4):1039–50.
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13. Berry MG, Davies DM. Breast augmentation: part I—a review of the silicone prosthesis. J Plast Reconstr
Aesthet Surg. 2010;63:1761–8.
[CrossRef][PubMed]

14. Berry MG, Cucchiara V, Davies DM. Breast augmentation: part III—preoperative considerations and planning. J
Plast Reconstr Aesthet Surg. 2011;64:1401–9.
[CrossRef][PubMed]

15. Rosing JH, Wong G, Wong MS, Sahar D, Stevenson TR, Pu LL. Autologous fat grafting for primary breast
augmentation: a systematic review. Aesthet Plast Surg. 2011;35(5):882–90.
[CrossRef]

16. Wilson H, Spear SL. Fat grafting to breast. In: Neligen PC, Grotting JC, editors. Plastic surgery. Principles and
practice. St Louis: Elsevier; 2013. p. 581–604e2.

17. Spear SL, Pittman T. A prospective study on lipoaugmentation of the breast. Aesthet Surg J. 2014;34(3):400–8.
 [CrossRef][PubMed]

18. Berry MG, Cucchiara V, Davies DM. Breast augmentation: part II—adverse capsular contracture. J Plast
Reconstr Aesthet Surg. 2010;63:2098–107.
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© Springer International Publishing AG 2017
Aleksandar M. Vlahovic and Emir Q. Haxhija, Pediatric and Adolescent Plastic Surgery for the Clinician,
DOI 10.1007/978-3-319-56004-5_5

5. Breast Reconstruction in Congenital

Deformities
Aleksandar M. Vlahovic1 and Emir Q. Haxhija2
(1) Department of Plastic Surgery and Burns, Institute for Mother and Child Health
Care of Republic Serbia, University of Belgrade, New Belgrade, Serbia
(2) Department of Pediatric and Adolescent Surgery, Medical University Graz, Graz,
Austria

Keywords Breast – Congenital deformities – Children

5.1 Introduction
Breast anomalies in pediatric population are common and they can have a significant
psychological effect on teenage and adolescent girls (especially during breast
development) [1–5]. Mammary pathology is very often a reason for consultation in
medical practice [3]. The spectrum of breast disorders in pediatric population is
different from that in adults, with significant physiological impact on patients and
parents [1, 3–5]. Even most of pediatric breast lesions are benign, we have to think
about malignancies [1, 2, 5, 6]. There is lack of comprehensive categorization of these
abnormalities [1, 2].

5.2 Embryology
Breast development begins during the sixth week of gestation [1, 5, 7]. The breast
originates from the ectoderm, along the milk line from the primitive axilla to the
primitive groin [1, 5, 7–9]. By the tenth week, the upper and lower part of ridge
disappears and the normal breast develops on the anterolateral chest wall [1, 7, 9]. The
areola develops at the fifth month of gestation [7]. The average age of female thelarche
(when the breast growth begins) is approximately 11 years of age (range from 8 to 15
years) [5, 8, 9]. Typically, breast growth is complete between 16 and 18 years [7, 9].

5.3 Anatomy
The glandular tissue of the breast (with significant amount of adipose tissue) is fixed in
place by the superficial fascial system [10, 11]. The Cooper’s ligaments provide
interconnections between the deep and superficial fascial layers [4, 10, 11]. The breast
overlies the anterolateral thorax principally the second through sixth ribs, with the
nipple areola complex as the primary landmark of the breast [1, 4, 10, 11].

5.4 Diagnosis
Evaluation of breast-related symptoms in children begins with a thorough history
(regarding menstrual history for adolescent and family history of similar problems, and
other breast diseases) and physical examination [12, 13]. During physical examination
(which is performed with maximal care) besides the breast evaluation, any pre-existing
asymmetries, spinal curvature, or chest wall deformities should be recognized and noted
[10, 12, 13]. Breast sonography is generally the primary imaging modality used in
pediatric population [1, 5, 6, 12]. Magnetic resonance imaging (MRI) of the breast is
rarely used in children, likewise open biopsy and fine needle aspiration biopsy
(FNAB), while mammography has practically no use in pediatric patients [5, 6, 12, 13].

5.5 Classification
There is no adequate categorization of breast abnormalities in pediatric population [1,
2]. Breast anomalies can be roughly classified into four groups: hyperplasia,
hypoplasia, asymmetry, and deformation [1, 2, 7, 9].

5.5.1 Breast Hyperplasia

There are several possible causes of breast hyperplasia in pediatric population such as
premature thelarche, juvenile hypertrophy-macromasty, polythelia, polymasty, benign
tumors (fibroadenoma, vascular anomalies), malignant tumors (breast carcinoma,
phyllodes tumor, metastatic disease), non-tumorous masses (cysts, galactocele), and
gynecomasty (Figs. 5.1, 5.2, 5.3) [2, 6, 13].
Fig. 5.1 Galactocele of the left breast

Fig. 5.2 Hemangioma of the left breast

Fig. 5.3 Clinical appearance of bilateral gynecomastia

5.5.1.1 Premature Thelarche and Precocious Puberty

Premature thelarche presents as enlargement of one or both breasts from 6 months to 9
years of age and it occurs without other evidence of precocious puberty [4, 6].
Precocious puberty implies premature breast development in association with other
secondary sex characteristics (only 18% of girls with premature thelarche develops
precocious puberty) [4, 6, 14]. For premature thelarche, biopsy is contraindicated since
it is a benign and self-limited condition, and reevaluation is indicated every 6–12
months [6, 14].

5.5.1.2 Gigantomastia (Virginal Hypertrophy)

Virginal hypertrophy is massive enlargement of breast with patients generally aged 11–
16 years when the growth begins [1–4]. It is an uncommon primary condition with high
sensitivity to estrogens as possible etiological factor [1]. Excessively large breast in a
teenager can cause physical problem, such as pain and skin maceration, along with a
psychological problem [15, 16]. Treatment of virginal hypertrophy is surgical (in most
cases breast reduction with free nipple grafts, or mastectomy), with adjunct medical
therapy (medroxyprogesterone, dydrogesterone, tamoxifen) to prevent regrowth after
reduction mammoplasty [1, 3, 4, 13]. Psychologist and psychiatrist consultations are
also needed [1]. Reduction mammaplasty is rarely performed in pediatric population
(with similar indication as in adults) [10, 13, 15–21]. Surgery should be delayed,
whenever it is possible, until the end of puberty because of continued breast growth [1,
2, 4, 7, 15, 21]. There are two important decisions in breast reduction surgery: choice
of incision and choice of pedicle type, and breast amputation with free nipple graft
remains as an alternative to breast reduction with nipple-bearing pedicle [15–21].
Mammary ptosis is a rare entity in pediatric population. The Regnault classification
system for mammary ptosis describes mild, moderate, severe, and pseudoptosis
according to the relative positions of the nipple and the inframammary fold [10, 16, 18,
22]. Mastopexy is a procedure designed to elevate breast tissue and the nipple areola
complex to correct breast ptosis with several techniques involved (inverted-T
mastopexy, concentric mastopexy procedures, periareolar “round-block” mastopexy,
and vertical-incision mastopexy) used with different success and frequently combined
with breast augmentation [16, 18, 22].

5.5.1.3 Polymastia
Polymastia is the presence of the supernumerary breast, usually manifested at puberty
when hormonal influence started with an incidence of 1–2% of all live births [1–4, 9]. It
is typically located along the primitive milk line (most commonly in the axilla) (Fig.
5.4a–d) [1, 4, 7]. When it is located outside of the mammary line, it is called ectopic
mamma (Fig. 5.5a–c) [1, 3]. Since it is a subject to the same pathology as normally
located breast tissue, complete resection is recommended [1–4].
Fig. 5.4 Polymastia: (a) lesion in the left axillary region; (b) intraoperative view; (c) excised lesion; (d) 1 month after
excision
Fig. 5.5 Ectopic breast at sternal region: (a) preoperative appearance; (b) excised lesion; (c) postoperative
hypertrophic scar at sternal region

5.5.1.4 Polythelia
Polythelia (supernumerary nipple) is a benign, most commonly encountered pediatric
breast anomaly [1, 2, 4, 7, 9]. The incidence is 1–3%, and there is a male predominance
[1, 7, 9]. It results from the failure of mammary ridge to regress in utero, but it can be
located out of the mammary ridge also [1, 13]. If it is associated with polymastia, it is
generally recognized at birth, and as a sole entity, polythelia is often unrecognized until
the puberty (often misdiagnosis for nevi) [1]. Associated renal anomalies should be
evaluated (physical exam, urinalysis, and renal ultrasound (US)) [1, 2, 4]. Excision is
mostly because of surgery (Fig. 5.6a, b) [1, 2, 4, 7].

Fig. 5.6 Polythelia: (a) left female breast polythelia; (b) excision and reconstruction with local flap

5.5.2 Breast Masses

In neonatal and prepubertal period, there is often a palpable breast mass, in one or both
breasts, in either sex, that typically resolves spontaneously in a few months [4]. Benign
breast masses include fibroadenoma, phyllodes tumors, and fibrocystic disease (non-
tumorous mass) [4, 13]. Adolescent breasts are typically fibrous with small lumps and
cysts present through the breast [3, 13]. Biopsy of the prepubertal breasts is rarely
indicated [4]. Firm support, analgesics, and reassurance are treatment options [3, 13].
Simple fibroadenoma is the most common breast lesion in adolescent females (91% of
solid breast masses in girls under 19 years) (Fig. 5.7a, b) [4, 6, 13]. It is benign,
nontender mass that grows as the result of tissue hypersensitivity to normal levels of
gonadal hormones [1, 7, 9]. In 75% common fibroadenoma is presented as single lesion,
the diagnosis is made by physical examination and ultrasound (US), and most of them
can be observed safely [4, 13]. For patients with giant fibroadenoma (greater than 5 cm
in size), complex fibroadenomas, positive family history, or associated proliferative
disease, excision is recommended (increased risk of breast Ca) [2, 3, 6, 7, 9, 13].
Vascular anomalies, if located in the breast, can cause breast hypertrophy (they can be
ruled out with US and MRI) [4, 6].
Fig. 5.7 Left breast fibroadenoma: (a) preoperative view; (b) complete excision of the tumor

Cystosarcoma phyllodes represents 0.4% of all adolescent breast masses; it occurs

de novo from lobular connective tissue, and in most cases it exhibits a benign behavior
[4, 6, 12, 13]. Treatment is total excision of the tumor mass or mastectomy [12, 13].
Primary breast cancer is extremely rare, and it accounts for less than 1% of all
childhood cancers and less than 0.1% of all reported breast cancers [6, 12]. Radiation-
induced breast carcinoma is most frequently seen in young girls with Hodgkin disease,
and there are also rhabdomyosarcomas, sarcomas, and non-Hodgkin lymphoma reported
as primary malignancies in the breast, with surgical treatment as a primary option [6,
12, 13].

5.5.3 Breast Hypoplasia

Breast hypoplasia includes the following conditions: athelia, amazia, amastia, and
hypoplasia in Poland’s syndrome.

5.5.3.1 Athelia
Athelia is an extremely rare condition, defined as congenital absence of the nipple
areola complex (NAC) [1, 2, 4, 7, 9, 13]. It should be differentiated from amazia and
amastia [1, 2, 7]. Incidence and etiology are not known, and it is usually associated with
syndromes [1, 7]. In males, reconstruction is performed after puberty, and in females, if
there is associated amastia, reconstruction is performed along with breast
reconstruction [1].

5.5.3.2 Hypomasty
Hypomasty (breast hypotrophy) is the condition when the breast and NAC are present
but underdeveloped and reconstruction is performed by augmentation with implants
(Fig. 5.8) [2, 3].

Fig. 5.8 Clinical appearance of bilateral hypomastia

5.5.3.3 Amastia
Amastia presents a very rare condition with complete absence of breast tissue and NAC
that occurs in males and females, unilateral or bilateral, sole or as a part of syndrome
(Sy Mayer-Rokitansky-Kuster-Hauser) (Fig. 5.9) [1, 2, 4, 9]. Breast reconstruction in
amastia is usually performed with tissue expansion and subsequent implant placement,
or with autologous tissue (transverse rectus abdominis or latissimus dorsi flap) [1, 2,
7]. Amazia presents complete absence of breast tissue (Fig. 5.10) [1, 2, 7, 9].
Fig. 5.9 Bilateral amastia: complete absence of the breast tissue and nipple-areola complex

Fig. 5.10 Amazia: breast tissue absence

5.5.3.4 Poland’s Syndrome

Alfred Poland had described a chest and hand deformity in 1841 at an executed convict,
with only chest wall presented in picture [1, 23]. Patrick Clarkson named it Poland’s
syndrome in 1962 describing three patients with chest and hand deformity at the same
hospital [23, 24]. The incidence of Poland’s syndrome varies from 1:7000 to 1:10,000;
it is mostly sporadic, but it can be familial also [1, 2, 4, 7, 23–27]. There is male
predominance in sporadic form (3:1), with right side more involved, and in familial
form both sides and sexes are equally affected [1, 7, 27]. Poland’s syndrome is
characterized in most cases by partial or complete underdevelopment or absence of
sternocostal head of pectoralis major muscle [1, 4, 23–27]. It rarely involves full
spectrum of following anomalies: hypoplasia of the breast and nipple, scarcity of
subcutaneous tissue over pectoral region, absence of the pectoralis minor, deficiency of
additional chest wall muscles, aplasia of costal cartilages or ribs II–V, alopecia of
axillary and mammary regions, and unilateral brachysyndactyly [1]. Interruption of the
embryonic blood supply to the upper limb in the six embryonic weeks is the most
probable etiological factor [1, 4, 23–27]. Renal anomalies should be excluded [1].
Surgical management of Poland’s syndrome depends on the extent of the anomaly [1,
27]. The operation can be performed from 11 to 12 years, but when it is possible, repair
should be delayed until after puberty (Fig. 5.11a–d) [1]. Corrective procedures include
subcutaneous breast implants with or without tissue expanders, lipofilling, nipple areola
reconstruction, and complete chest wall reconstruction with free muscle flap transfers
[1, 2, 4, 7, 23, 25–27]. Contralateral procedures are used to achieve symmetry [1, 24].
Fig. 5.11 Poland’s syndrome breast deformity: (a, b) preoperative view; (c, d) reconstruction with silicone gel
implants
5.5.4 Tuberous Breasts
This is a congenital anomaly with herniation of breast tissue through constrictive fascial
ring (snoopy nose deformity) [2, 4, 7, 9, 13]. There is narrow mammary base, elevation
of inframammary crease, and hypoplasia of one or more breast quadrants (Fig. 5.12) [1,
4]. Tuberous breasts most probably occur because of abnormal adherence of superficial
fascia to dermis [1, 28]. It is a rare anomaly, in most cases bilateral and asymmetric,
usually diagnosed at 12–13 years of life, with functionally normal breasts [1, 2, 4, 24,
28]. The diagnosis is made by physical examination of the breasts [28]. There are
several different classification systems proposed by Heimburg et al., Meara et al., and
Muti [1, 7, 9, 28, 29]. Surgical repair of tuberous breast is challenging and it should be
postponed until the breast development is complete [1, 4, 7, 9, 28].

Fig. 5.12 Unilateral tuberous breast

For mild and moderate deformities with adequate breast volume, breast parenchyma
may simply be scored or divided, allowing for redraping, and if additional volume is
needed, augmentation mammaplasty should be performed [4, 24]. In severe cases more
than one procedure is needed (with tissue expansion and skin flaps employed) [1, 4, 7,
9]. Muti describes four types of glandular flaps that are used for reconstruction of
tubular breasts along with mammary prosthesis [28].
5.5.5 Breast Asymmetry
Breast asymmetry occurs in more than half of the female population defined as
asymmetric morphology of the shape, volume, or position of the breast, NAC, or both
[3, 4, 12, 14]. They are roughly classified as congenital or acquired [14, 29–33]. Breast
asymmetry may cause physical discomfort and early surgical correction may be
warranted [4]. There are several classification systems for breast asymmetry, and one of
them includes six categories of breast asymmetry: (1) bilateral asymmetric hypertrophy,
(2) unilateral hypertrophy/contralateral normal, (3) unilateral hypertrophy/contralateral
amastia or hypoplasia, (4) unilateral amastia or hypoplasia/contralateral normal, (5)
asymmetric bilateral hypoplasia, and (6) unilateral mammary ptosis (Fig. 5.13a–f) [4,
14]. Only in extreme cases the surgery is needed, and the correction is performed after
the breast development is finished (Fig. 5.14a–d) [3, 14]. In case of hypertrophy,
reduction is performed in group I and II, reduction and augmentation on opposite side in
group III, muscular flap techniques in group IV, augmentation mammaplasty in group V,
and mastopexy and augmentation mammaplasty in group VI [4, 14]. Tissue expansion is
performed until the breast volume of the reconstructed breast is symmetric with the
contralateral breast [3, 4, 30].
Fig. 5.13 Breast asymmetry: (a) bilateral asymmetric hypertrophy; (b) unilateral hypertrophy/contralateral normal;
(c) unilateral hypertrophy/contralateral amastia or hypoplasia; (d) unilateral amastia or hypoplasia/contralateral normal;
(e) asymmetric bilateral hypoplasia; and (f) unilateral mammary ptosis
Fig. 5.14 Mammary ptosis of the left breast and hypoplasia of the right breast: (a, b) preoperative view; (c)
mastopexy of the left breast and augmentation mammoplasty of the right breast; (d) the same patient as adult, 8 years
after surgery and significant weight loss (reoperation is indicated)

5.5.6 Traumatic and Iatrogenic Breast Disease

Burns, traumatic lacerations, dog bites, and surgical procedures can lead to damage of
skin, subcutaneous, or deeper tissue of the breast as well (Fig. 5.15a–c) [1, 2, 4, 7, 9,
28, 30]. Inadequate tissue volume can be managed with tissue expansion and
augmentation mammaplasty, and for nipple areola complex, cosmetic reconstruction can
be performed using nipple sharing, full-thickness skin graft (FTSG) with a tattoo, and
cartilage or toe pulp for reconstruction of nipple [1, 2, 7, 9].

Fig. 5.15 Breast deformity caused by burn scar: (a) chemical burn; (b) result after necrectomy and skin grafting; (c)
scar reconstruction with tissue expanders

5.5.7 Breast Infection

In neonates (2–3 weeks) and prepubertal children, mastitis usually involves the entire
breast complex and is caused most often by gram-positive bacteria (Staphylococcus
aureus) (Fig. 5.16) [6, 12, 13]. Antibiotics are required (systemic or perorally), and in
the presence of breast abscess, incision and drainage may be necessary (with maximal
care) [3, 12, 13].
Fig. 5.16 Mastitis of the right breast

5.5.8 Nipple Discharge

Nipple discharge is rare in pediatric population [3]. The characteristics of fluid provide
clues to the underlying pathology [12, 13]. Serous discharge is not important, and
bloody nipple discharge in prepubertal patients is sometimes associated with infantile
mammary duct ectasia, intraductal papilloma or cyst (extremely rare in adolescents), or
chronic cystic mastitis (Fig. 5.17) [3, 12, 13]. Treatment is surgical excision of the
entire involved duct. Purulent discharge is associated with infection of the breast, and
galactorrhea may be caused in adolescents by increase in prolactin, endocrine
abnormalities, and drugs [3, 13, 34].

Fig. 5.17 Serous nipple discharge

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© Springer International Publishing AG 2017
Aleksandar M. Vlahovic and Emir Q. Haxhija, Pediatric and Adolescent Plastic Surgery for the Clinician,
DOI 10.1007/978-3-319-56004-5_6

6. Male Breast Reduction

Aleksandar M. Vlahovic1 and Emir Q. Haxhija2
(1) Department of Plastic Surgery and Burns, Institute for Mother and Child Health
Care of Republic Serbia, University of Belgrade, New Belgrade, Serbia
(2) Department of Pediatric and Adolescent Surgery, Medical University Graz, Graz,
Austria

Keywords Gynecomastia – Children – Correction

6.1 Introduction
Gynecomastia is defined as benign proliferation of male breast (ductal tissue, stroma,
and/or fat) [1–4]. The term gynecomastia is derived from Greek words gyne, women,
and mastos, breast [5]. Reported incidence of gynecomastia is different, and it ranges
from 32 to 36% and up to 65% [1, 5–8]. Gynecomastia can be confused with
pseudogynecomastia (accumulation of subareolar fat without real proliferation of
glandular tissue, usually in the presence of general obesity) [3, 5, 7, 9].

6.2 Embryology
The breast originates from the ectoderm, and the connective tissue is derived from the
mesoderm [2, 5–8]. By the tenth week of gestation, the upper and lower part of milk line
(from the primitive axilla to the primitive groin) disappears, and the limited portion at
the level of the fourth intercostal space of embryo remains and forms the basis for
development of the neonatal breast [5–8]. By birth, neonatal mammary tissue becomes
functional; it grows proportionally with the child during childhood [8]. Until the
puberty, the growth of breast is identical for males and females [2, 5, 6].

6.3 Anatomy
In adults, breasts are in position between the second and third and seventh and eighth
rib; medially, there are sternal edge and laterally midaxillary line [5, 8]. Besides the
skin and subcutaneous tissue, the breast is made up of parenchymatous and stromal
tissue [5, 7, 8]. The breast is supplied by a vascular network consisting of the internal
mammary, lateral thoracic, and intercostal arteries [5, 8]. Sensory supply of the breast is
provided by T3–T5 nerve roots; the superior portion of the breast is supplied by
supraclavicular nerve, and the nipple receives sensory innervation from T4 [7].

6.4 Pathophysiology
The etiology of gynecomastia is not completely understood [2]. It is thought to be the
result of an imbalance of estrogen action relative to androgen action at the breast tissue
level [3, 5, 10–12].
Gynecomastia can be classified as asymptomatic (with high incidence) and
symptomatic (it is rare) [3, 5, 7]. Bailey et al. categorized gynecomastia in four groups:
physiologic, pathologic, pharmacologic, and idiopathic [13].
Most commonly, gynecomastia is idiopathic [3, 10].
Physiologic (asymptomatic) gynecomastia is very common; it is related to
hormonal changes; and it has three peaks of occurrence in neonatal, pubertal (in almost
66% of adolescent boys), and old age period (older than 65 years) [1–3, 5, 7, 8, 10,
11]. Leptin may play role in the development of physiologic gynecomastia [2].
Pathologic (symptomatic) gynecomastia is very rare, and it can be caused by
increase in estrogen, a decrease in testosterone, medication, or drug use, or it may be
idiopathic [2, 10].
Elevated serum estrogen levels may be a result of estrogen-secreting neoplasms or
their precursors or with increase extragonadal conversion of androgens to estrogens by
tissue aromatase [2, 5]. Increase aromatization of the precursors of the estrogen can
result in the elevation of the estrogens (testicular germ cell tumors, liver disease,
hyperthyroidism, Klinefelter syndrome) [2, 3, 12]. Levels of free serum testosterone are
decreased in patients with gonadal failure [1–3, 9]. Serum levels of sex hormone-
binding globulin (SHBG) can affect the estrogen/androgen balance in hyperthyroidism
and chronic liver disease [1, 3, 9, 10].
Drugs may be associated with gynecomastia (pharmacologic gynecomastia) [1–3,
5–7, 10]. The use of medications such as hormones (antiandrogens, anabolic steroids,
estrogen), antibiotics (metronidazole, ketoconazole, isoniazid), antiulcer medications
(cimetidine, omeprazole, ranitidine), chemotherapeutic agents (methotrexate),
cardiovascular drugs (digoxin, nifedipine, verapamil, spironolactone), psychoactive
agents (diazepam, haloperidol), and marihuana is believed to cause gynecomastia [3, 9,
10, 12].
There is no increased risk of breast cancer in patients with gynecomastia when
compared to the unaffected male population (with the exception of patients with
Klinefelter syndrome) [1, 2, 9].

6.5 Pathology
Three types of gynecomastia have been described: florid, fibrous, and intermediate [1,
5, 9]. The florid type is characterized by an increase in ductal tissue and vascularity
with a variable amount of fat, the fibrous type has more stromal fibrosis and few ducts,
and the intermediate type is a mixture of the two [7, 11]. Florid gynecomastia is usually
seen when the duration is 4 months or less, the fibrous type is usually present after
duration of 1 year, and the intermediate type is usually seen between 4 and 12 months
[8, 11].

6.6 Classification
Various classification schemes have been proposed for gynecomastia [11, 14–16].
There are two classifications of gynecomastia mostly used in practice presented by
Simon and Rohrich [11, 16]. Simon et al. proposed a qualitative classification of
volume and skin redundancy dictating treatment: grade I, small enlargement, no skin
excess; grade IIA, moderate enlargement, no skin excess; grade IIB, moderate
enlargement with extra skin; and grade III, marked enlargement with extra skin (Fig.
6.1a–d) [7, 11, 17].
Fig. 6.1 Different types of gynecomastia (according to Simon classification): (a) grade 1; (b) grade 2a; (c) grade 2b;
(d) grade 3

Rohrich’s classification is based on the amount of tissue mass requiring excision

(adipose versus fibrous tissue predominance): grade I, minimal hypertrophy (<250 g of
breast tissue) without ptosis, (IA primarily glandular, IB primarily fibrous); grade II,
moderate hypertrophy (250–500 g of breast tissue) without ptosis (IIA primarily
glandular, IIB primarily fibrous); grade III, severe hypertrophy (>500 g of breast tissue)
with grade I ptosis (glandular or fibrous); and grade IV, severe hypertrophy with grade
II or III ptosis (glandular or fibrous) [11, 16].

6.7 Clinical Manifestation

Gynecomastia is usually bilateral (it may also appear as asymmetrical or unilateral) [1,
3, 10]. On examination, gynecomastia presents as palpable, firm, tender, mobile, mound
of tissue [1, 3, 9, 10].
There is positive family history in more than half of patients with persistent pubertal
gynecomastia [3]. The testicular exam should be included in physical examination since
it may reveal presence of malignancy or varicoceles [1, 3, 7, 8].
6.8 Diagnosis
A careful history (time of onset, associated symptoms, drug use, careful review of organ
systems) and physical examination is the most important part of any workup for
gynecomastia [1–3, 9]. Patients with pseudogynecomastia have diffuse breast
enlargement without a subareolar palpable nodule (Fig. 6.2) [2, 3, 9, 10]. These patients
do not require additional workup and only require reassurance [2, 3, 9].

Fig. 6.2 Bilateral pseudo-gynecomastia

Physical examination should include assessment of the breast gland (nature of the
tissue, isolated masses, and tenderness), thyroid gland, and the testis [3, 9, 10]. Any
other new positive findings on physical examination should be evaluated [1, 3, 9, 10].
Patients with pseudogynecomastia do not need further workup [3].
If the history and physical examination revealed a painful gynecomastia, without
known cause, laboratory evaluation is indicated; liver, kidney, and thyroid tests should
be performed, and estradiol, testosterone, prolactin, luteinizing hormone, serum DHEA-
sulfate, and hCG should be measured [3, 6, 9, 10]. If all endocrine testing in patient with
feminizing characteristics is negative, idiopathic gynecomastia is diagnosed [3].
Imaging studies or biopsy are rarely used [10].
Differential diagnosis of gynecomastia includes pseudogynecomastia, dermoid cyst,
sebaceous cyst, ductal ectasias, hematoma, fat necrosis, galactocele, and breast
carcinoma (extremely rare in children) [1–3, 7, 9, 10, 18].

6.9 Treatment Option

Treatment of gynecomastia depends on underlying cause, and it can be conservative or
surgical [1, 4, 5, 9, 10].

6.9.1 Conservative Treatment

Conservative treatment is possible until there is no fibrosis with antiestrogens
(tamoxifen), androgens (danazol), and aromatase inhibitors [3, 4, 6, 9, 10, 12, 13]. In
some cases (drug-induced gynecomastia, chemotherapy, hypothyroidism, tumors) by
eliminating the cause, one can resolve gynecomastia [1, 6, 9–11, 15]. In near 25% of
gynecomastia, the cause is not identified, and for these patients, the treatment is
recommended only if there is pain, psychological discomfort, or embarrassment [3, 4,
10]. These patients can be initially treated with drug therapy [3, 10].

6.9.2 Surgical Treatment

Surgery is treatment of choice for gynecomastia, and it is usually performed under
general anesthesia [3, 4, 14, 19]. Surgery is performed if gynecomastia persists beyond
1 year despite of treatment, and it can be performed in any stage of gynecomastia [4, 9,
11, 13]. A wide range of surgical techniques has been described for appropriate
gynecomastia stage [1, 3, 4, 7, 11, 13, 15–17, 19–21]. There is a shift from open
approach to minimally invasive techniques [3, 4, 15, 19]. The surgical procedures used
to treat gynecomastia include excision, conventional liposuction with or without
excision, power-assisted liposuction (PAL), ultrasound-assisted liposuction (UAL), and
vibration amplification of sound energy at resonance (VASER)-assisted liposuction
(newer form of UAL) [4, 11, 14, 15, 19].
The traditional reduction mammoplasty is still required for a selected group of
patients with well-localized fibrous gynecomastia under the nipple or with significant
amount of excess skin and ptosis (Fig. 6.3a, b) [11, 15].
Fig. 6.3 Surgical treatment of unilateral gynecomastia: (a) preoperative view; (b) postoperative result

Current literature supports the use of ultrasound-assisted liposuction or liposuction

alone, and combination of these procedures with direct excision of the residual breast
tissue [13, 19]. UAL has several advantages in the treatment of gynecomastia (better
emulsification of the fat and efficient removal; it promotes skin retraction) [4, 13, 15,
19].
Most fibrous or solid lesions (Simon grade I or IIA - Rochrich grade I and II)are
usually treated with surgical excision or, in some cases, with UAL [11, 16]. The skin
incision is placed at the junction of the areola and skin; a cuff of tissue 1–1.5 cm in
thickness is left directly under the NAC to prevent postoperative nipple areola
depression [11].
If the patient has a lesion that is glandular, fatty, or mixed in nature and is Simon
grade I or IIA, the area could be treated with liposuction, and if liposuction is
unsuccessful, there are several additional options (“pull-through” technique, periareolar
incision, arthroscopic shavers insertion through small inframammary incisions) [11, 15].
In patients with Simon grade IIB and Rochrich grade III gynecomastia (fat,
glandular, or mixed), the initial treatment is like in grade I or IIA gynecomastia followed
by skin resection after 6–12 months [11, 14]. In solid or fibrous Simon grade IIB
gynecomastia, UAL with pull-through or open approach with skin reduction should be
performed [11].
There are numerous incisions and techniques described for severe gynecomastia
(Simon grade III and Rochrich grade IV) similar to those used in female mastopexy and
reduction mammaplasty, and liposuction with skin excision can also be used (Fig. 6.4a–
e) [4, 11, 12, 17, 20, 21].
Fig. 6.4 Surgical treatment of grade 3 gynecomastia: (a) preoperative view; (b) preoperative markings; (c) right
breast excision; (d) left breast excision; (e) early postoperative result

6.10 Complications
Complications of gynecomastia surgery has been reported up to 50% including
hematoma, wound infection, scarring, contour deformity (underresection and
overresection), breast asymmetry, pain, and sensory changes [1, 7, 15]. Hematoma is a
common early complication after surgical treatment of gynecomastia (the incidence of
hematoma decreases with postoperative closed suction drainage), and it should be
evacuated to prevent complications [1, 7, 11, 15]. Postoperative wound infection is
uncommon [15]. Underresection is the most common long-term complication, especially
in liposuction cases, and overresection in the nipple areola can result in a saucer-type
deformity (difficult to correct) [2, 15]. Loose skin is usually not considered a
complication if it is part of the operative plan, and if it occurs as an unexpected manner,
surgical excision is required [1, 2, 15].

6.11 Postoperative Care

Postoperative drainage may be used if the dead space is large, patients are placed in
compression garments for 6–8 weeks, and sustaining of sport activities for several
weeks is also advised [1, 15].

References
1. McGrath MH. Gynecomastia. In: Jurkiewitz MJ, Krizek TJ, Mathes SJ, Ariyan S, editors. Plastic surgery.
Principles and practice. St Louis: Mosby; 1990. p. 1063–93.

2. Kaneda HJ, Mack J, Kasales CJ, Schetter S. Pediatric and adolescent breast masses: a review of pathophysiology,
imaging, diagnosis, and treatment. AJR Am J Roentgenol. 2013;200(2):W204–12.
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3. Johnson RE, Hassan MM. Gynecomastia: pathophysiology, evaluation, and management. Mayo Clin Proc.
2009;84(11):1010–5.
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4. Fruhstorfer BH, Malata CM. A systematic approach to the surgical treatment of gynaecomastia. Br J Plast Surg.
2003;56(3):237–46.
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5. Schermak MA. Congenital and developmental abnormalities of the breast. In: Jatoi I, Kaufmann M, editors.
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editors. Management of breast diseases. Berlin: Springer; 2016. p. 41–55.
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7. Latham K, Fernandez S, Iteld L, Panthaki Z, Armstrong MB, Thaller S. Pediatric breast deformity. J Cran Surg.
2006;17(3):454–67.
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8. Arca MJ, Caniano DA. Breast disorders in the adolescent patient. Adoles med Clin. 2004;15(3):473–85.
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10. Bembo SA, Carlson HE. Gynecomastia: its features, and when and how to treat it. Cleve Clin J Med.
2004;71(6):511–7.
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11. Karp NS. Gynecomastia. In: Thorne CH, Beasley RW, Aston SJ, Bartlett SP, Gurtner GC, Spear SL, editors.
Grabb and Smith’s plastic surgery. Philadelphia: Lippincott Williams & Wilkins; 2007. p. 616–20.

12. Laituri CA, Garey CL, Ostlie DJ, St. Peter SD, Gittes GK, Snyder CL. Treatment of adolescent gynecomastia. J
Ped Surg. 2010;45:650–4.
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13. Bailey SH, Guenther D, Constantine F, Rohrich RJ. Gynecomastia Management: an evolution and refinement in
technique at UT Southwestern Medical Center. Plast Reconstr Surg Glob Open. 2016;4(6):e734–41.
[CrossRef][PubMed][PubMedCentral]

14. Cordova A, Moschella F. Algorithm for clinical evaluation and surgical treatment of gynaecomastia. J Plast
Reconstr Aesthet Surg. 2008;61(1):41–9.
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15. Brown RH, Chang DK, Siy R, Friedman J. Trends in the surgical correction of gynecomastia. Semin Plast Surg.
2015;29(2):122–30.
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16. Rohrich RJ, Ha RY, Kenkel JM, Adams Jr WP. Classification and management of gynecomastia: defining the role
of ultrasound-assisted liposuction. Plast Reconstr Surg. 2003;111(2):909–23. Discussion 924–5.
[CrossRef][PubMed]

17. Cannistra C, Piedimonte A, Albonico F. Surgical Treatment of gynecomastia with severe ptosis: periareolar
incision and dermal double areolar pedicle technique. Aesth Plast Surg. 2009;33:834–7.
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18. Vlahovic A, Djuricic S, Todorovic S, Djukic M, Milanovic D, Vujanic GM. Galactocele in male infants: report of
two cases and review of the literature. E J Ped Surg. 2012;22(3):246–50.
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of techniques. Plast Reconstr Surg. 2010;125(5):1301–8.
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Reconstr Surg. 1982;69(1):36–9.
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© Springer International Publishing AG 2017
Aleksandar M. Vlahovic and Emir Q. Haxhija, Pediatric and Adolescent Plastic Surgery for the Clinician,
DOI 10.1007/978-3-319-56004-5_7

7. Cleft Lip and Palate

Aleksandar M. Vlahovic1 and Emir Q. Haxhija2
(1) Department of Plastic Surgery and Burns, Institute for Mother and Child Health
Care of Republic Serbia, University of Belgrade, New Belgrade, Serbia
(2) Department of Pediatric and Adolescent Surgery, Medical University Graz, Graz,
Austria

Keywords Cleft lip and palate – Children – Treatment

7.1 Introduction
Cleft lip and palate are the most common congenital craniofacial anomalies [1, 2]. Cleft
lip (CL), cleft palate (CP), and cleft lip and palate (CLP) constitute a heterogenous
group of birth defects with multifactorial origin [1]. Cleft care requires closely allied
reconstructive and cosmetic principles, applied by a plastic surgeon as a member of a
collaborative multidisciplinary team [3–8]. Major advances in the care of children born
with CLP occurred in the last three decades, and there is a tendency for cleft care
centralization [4].

7.2 Embryology
Primary palate develops from 4 to 8 gestational weeks (GW) and secondary palate
develops from 5 to 12 GW [2, 9, 10]. Although they often occur together, they have
different embryonic origins [2, 6, 7, 11]. Medial nasal, lateral nasal, and maxillary
processes are involved in the formation of primary palate, and any failure of fusion will
give a rise to the cleft of the lip, alveolus, and hard palate to the incisive foramen on
one or both sides [6, 9–11]. The secondary palate develops from the paired lateral
palatine processes [2, 10, 11]. This shelf-like mesodermal projections are fused
together from anterior to posterior, after the tongue is moved inferiorly [7, 11]. If the
shelves do not fuse (as a result of defective growth, failure to rise above the tongue, or
there is a rupture after fusion), cleft palate occurs [2, 7].

7.3 Cleft Anatomy

Normal lip anatomy is a reconstructive goal [6]. The lip surface is divided into
cutaneous, dry vermilion, and vet vermilion part, and superior to the upper lip in central
position is the nose with philtrum lying between these two [6, 10, 12]. Deep to the skin
is the orbicularis oris muscle (OOM) which is striated and it encircles the mouth [6,
10]. The palate consists of anterior bony (hard) palate covered with mucoperiosteal
lining, and posterior muscular (soft) palate, with foramen incisivum that delimits
primary from secondary palate [6, 11, 13]. Soft palate muscles (m. levator veli palatini
and m. tensor veli palatini as most important) are involved in speech, swallowing, and
hearing [6, 11, 13–15].
In unilateral CL, lip is short on medial side, philtral column is flattened, and
vermilion is narrow [10, 12]. On lateral side vermilion border and red line converge as
they approach to cleft, with the deficiency of OOM and misdirection to the alar base and
columella [5, 6, 10, 12, 13]. The nasal floor, alveolus, and palate can also be involved
[10, 12].
In bilateral CL, the prolabium and premaxilla remain entirely separated from the
lateral lip and maxillary arch elements [1, 5, 6, 13]. The cutaneous roll of prolabium is
of poor quality, the height of vermilion is inadequate, labial sulcus is shallow, there is
lack of OOM, and the lateral elements are similar to lateral elements of unilateral cleft
[1, 13].
Unilateral complete CLP is characterized by direct communication between the
entire length of the nasal passage and oropharynx (there is a full thickeness palatal
defect of nasal mucosa, bony palate, velar musculature, and oral mucosa), and the nasal
septum is deviated and buckled toward the cleft side (in bilateral cleft palate vomer
remains free of attachments to the palatal shelves) [1, 11, 13]. Isolated cleft palate can
occur as an opening in the posterior soft palate to a cleft extending up to the incisive
foramen, and in submucous cleft palate, there is underlying levator palatine muscle
discontinuity with triad of symptoms midline clear zone (zona pellucida), bifid uvula,
and a palpable notch in the posterior hard palate [1, 11].

7.4 Epidemiology
The overall incidence of CLP is 1/700 [2, 4, 6, 8, 15]. Isolated cleft palate has an
overall incidence of 0.4–0.5 per 1000 live births [1, 2, 4, 16]. The most common
diagnosis is CL/P, followed by isolated cleft palate and then isolated cleft lip [2, 6].
Unilateral clefts are nine times as common as bilateral clefts, the left side is more often
involved than right side, and the majority of bilateral and unilateral cleft lips are
associated with a cleft palate [1, 2, 6]. Males are predominant in the CL/P population
and females in isolated CP [2, 6].

7.5 Etiology
Both environmental (phenytoin, thalidomide, retinoic acid, maternal cigarette smoking,
alcohol use) and genetic factors are involved in the genesis of cleft lip and palate [1, 2,
6, 15]. Gender differences (palate develops 1 week later in males), low socioeconomic
status, parents’ age, as well as maternal obesity play a role in clefting [1, 2, 6].
Clefts are classified as non-syndromic (without other physical or developmental
anomalies, and known teratogenic exposures) and syndromic [2, 15, 16]. Isolated CP is
most commonly a part of the syndromes compared to all cleft types (in 50% of all
cases) [1, 2, 6].
There are more than 350 Mendelian disorders associated with CLP (Van der Woude,
Treacher-Collins, Waardenburg, Apert’s, Stickler’s, Carey-Fineman-Ziter,
velocardiofacial syndrome, Pierre Robin sequence, etc.) (Fig. 7.1) [1, 2, 6, 10, 11].
Fig. 7.1 Syndromic cleft palate: (a) Pierre Robin syndrome; (b) Van der Woude syndrome (lower lip pits); (c) Möbius
syndrome; (d) Apert’s syndrome

7.6 Diagnosis
Prenatal diagnosis of CL by ultrasound (US) is possible in more than 70% of cases [17,
18]. This is very important to establish because the birth of a child with cleft is a very
large stress for unprepared parents, and it allows early preparation of the family [4, 8,
16–18]. The mean gestational age at detection of CL reported by some authors is 25.5
weeks [6].
 Neonatologist or pediatrician has to be available at the time of the delivery (patients
with clefts are in most cases already seen by pediatricians after the delivery and sent to
the surgeon) [6, 8]. After cleft evaluation, complete examination of the oral cavity and
entire body has to be performed (to exclude associated anomalies) [1, 8]. Instructions
and assistance should be given to the parents regarding the feeding issues [8]. After
birth, genetic counseling for the parents may be beneficial, and the child with CL and/or
CP should be sent to regional cleft center [1, 3, 4, 8]. Parents are usually very upset and
even angry with plethora of questions regarding etiology, care, and surgical treatment of
their child [4, 6].

7.7 Surgical Evaluation and Classification

Clefts are typically divided into four groups: cleft of primary palate (unilateral,
bilateral, total, or subtotal), cleft of secondary palate (total, subtotal, and submucosal),
cleft of primary and secondary palate (unilateral, bilateral, total, or subtotal), and rare
facial cleft [1, 6, 16].
Kernahan proposed a system to classify cleft lip and palate with the incisive
foramen as central landmark and Y-shaped diagram (upper limbs represent primary
palate and lower limb represent hard and soft palate) [1, 10, 16]. This classification is
modified by adding numbers for more precise description [17]. Otto Kriens proposed a
system that used letters to present components [1, 10]. The acronym LAHSHAL denotes
the bilateral anatomy of the lip (L), alveolus (A), hard (H), and soft (S) palates, by
convention from right to left [1, 10, 16]. Small letters represent incomplete clefts of the
structure, and a period denotes no cleft [1, 10]. Clefts also can be recorded by letter
codes (R, right; L, left; P, primary; S, secondary; C, complete, I, incomplete) [16].
There are several types of unilateral CL: unilateral incomplete clefts have in
common an intact nasal sill, or Simonart band, and unilateral complete clefts are
characterized by disruption of the lip, nostril sill, and alveolus (complete primary
palate), and there is a group of unilateral CL named lesser-form clefts with three
anatomical categories (minor-form, microform, mini-microform clefts) (Fig. 7.2a–e)
[1, 10, 16, 19].
Fig. 7.2 Different types of unilateral cleft lip: (a) microform cleft lip; (b) mini-microform cleft lip; (c) minor form cleft
lip; (d) unilateral incomplete cleft lip; (e) unilateral complete cleft lip

In incomplete bilateral primary clefts, there is a near-normal nose, a normally

positioned premaxilla, and clefts involving only the lip, and in complete bilateral
primary cleft, the protruding premaxilla with lateral palatal shelves is collapsed
toward the midline (Fig. 7.3a–c) [1, 5].
Fig. 7.3 Bilateral cleft lip: (a) incomplete bilateral cleft lip; (b) complete bilateral cleft lip; (c) complete isolated
bilateral cleft of primary palate

Unilateral complete clefts are characterized by disruption of the lip, nostril sill,
and alveolus, hard and soft palates [1, 10]. Small group of patient with complete
unilateral or bilateral CLP has nasolabiomaxillary hypoplasia and orbital
hypertelorism, and they are named binderoid CLP [20].
Isolated cleft palate can be unilateral, bilateral, and medial (total or subtotal) (Fig.
7.4a, b) [1, 7, 11]. Pierre Robin sequence includes micrognathia, glossoptosis, and
airway obstruction, typically associated with wide U-shaped cleft palate in up to 73–
90% of cases (Fig. 7.5) [11, 21]. Patients with submucous cleft palate are in generally
asymptomatic, although approximately 15% will develop velopharyngeal insufficiency
(VPI) (Fig. 7.6) [1, 6, 11].
Fig. 7.4 Cleft palate types: (a) incomplete cleft palate; (b) complete cleft palate
Fig. 7.5 Pierre Robin syndrome: (a) tracheostomy performed because of airway problems; (b) cleft palate of the
same child
Fig. 7.6 Submucosal cleft palate (zona pellucida)

7.8 Treatment of Cleft Patients

Goals of treatment for patients with clefts include generally: feeding counseling,
surgical treatment, hearing and speech evaluation, orthodontic treatment, and additional
surgical treatment [1, 8, 11, 13, 18].

7.8.1 Feeding
Most infants with CP are unable to breast feed because they cannot generate intraoral
vacuum, and food may reflux into the nasal passage (Fig. 7.7) [7, 8, 11]. There are
proper feeding techniques with the upright position (30°–45°) with special devices,
bottles, and nipples (with enlarged hole) made to make low resistance to flow [7, 11].
When surgery on palate is performed and the palate is closed, there is no need for
special feeding methods [11].
Fig. 7.7 Nasogastric feeding tube left in place by child’s mother for 10 months without any visit to a hospital or
outpatient clinic (low socioeconomic status)

7.8.2 Presurgical Nasoalveolar Molding

Presurgical infant orthopedics (PSIO) is classified as passive which include using of
alveolar molding plate (Liu’s and Grayson’s method) and active (Latham pinned coaxial
screw appliance) which requires a surgical procedure to introduce the device and to
remove it [1, 6, 7, 10, 13, 16, 22]. Gingivoperiosteoplasty (GPP) is a procedure used
for correction of the cleft alveolar segments at the time of cleft lip repair [5, 13]. There
are concerns about influences of PSIO and GPP on maxillary growth [1, 10, 22]. Lip
adhesion can also reduce the gap of alveolar segments by 60% [6, 10, 16, 22].
Objectives of presurgical nasal and alveolar molding (PNAM) are active molding
and repositioning of the nasal cartilages and alveolar processes and lengthening of the
deficient columella [1, 5, 10, 22]. PNAM is applied both to the patients with unilateral
and bilateral clefts in most cases during 6 weeks after birth [1, 22].
The external taping is the simplest technique for presurgical molding used in
combination with dental plate (Fig. 7.8a, b) [6]. Restoring the normal anatomy
presurgically allows lip repair under less tension [1, 5].

Fig. 7.8 Preoperative nasoalveolar molding (external taping in combination with dental plate): (a) unilateral cleft
treatment; (b) bilateral cleft treatment

7.8.3 Cleft Lip Surgery

7.8.3.1 Primary Unilateral Cleft Lip Repair
Modern repairs of unilateral CL repair have in common the use of a lateral lip flap to
fill a medial deficit [1, 6, 10, 13, 16, 23]. Most widely used techniques are those of
Tennison and Millard and their modification [23]. Tennison repair employs a back-cut
that extends from the Cupid’s bow peak to the center of the philtrum that is filled by a
lateral triangular flap (Fig. 7.9a–d) [6, 10, 23]. Millard described the concept of
advancing a lateral flap into the upper portion of the lip combined with downward
rotation of the medial segment (several modification of this technique has been
described) (Fig. 7.10a–d) [1, 6, 10, 23]. Noordhoff (Chang Gung), Bardach, Mohler,
and Fisher techniques for repair of the CL deformity have been most widely used (Fig.
7.11a–c) [6, 10, 13, 16, 23, 24].
Fig. 7.9 Correction of incomplete unilateral cleft lip (Tennison technique): (a) preoperative view; (b) intraoperative
markings; (c) triangular flap creation; (d) postoperative result

Fig. 7.10 Correction of unilateral cleft lip (Millard technique): (a) preoperative view; (b) intraoperative view; (c)
early postoperative result; (d) 6 months after surgery
Fig. 7.11 Correction of unilateral cleft lip (Fisher technique): (a) preoperative view; (b) intraoperative markings; (c)
postoperative result

The cleft lip repair is scheduled when the patient is approximately 12 weeks of age,
and it is performed in general anesthesia [1, 6, 16]. If the alveolar segments are
appropriately aligned and <2 mm apart, GPP can be performed at the time of the surgery
(this is not possible if the collapse is present or the gap is too wide) [1, 13]. The goal of
any operative technique for unilateral complete CL is to restore normal appearance
including lip and nasal deformity [1, 16].

7.8.3.2 Microform Cleft Operative Technique

An elliptical excision and a straight-line repair can be performed if the vertical height
of the affected side approximates that of the normal side [1, 10, 16, 19]. When the
vertical difference exceeds 1–2 mm, rotation-advancement repair is used [1, 19].

7.8.3.3 Primary Bilateral Cleft Lip Repair

Recently, because of positive NAM effects on labial elements, the results of one-stage
primary bilateral cleft lip and nose repair are significantly improved [1, 6, 25]. Central
lip vermilion is constructed with the vermilion tissue from the lateral lip segments [1,
13, 25].
There are numerous surgical techniques for bilateral cleft lip and nose repair, and
most popular are those presented by Mulliken, McComb, Cutting, Trott, and Chen and
Noordhoff (Fig. 7.12a–c) [1, 6, 13, 25, 26]. In cases with severe protrusion of
premaxilla, two-stage procedure is performed [26] (Fig. 7.13a–c).

Fig. 7.12 Bilateral cleft lip repair (Mulliken technique): (a) preoperative view; (b) postoperative result; (c) 6 months
after surgery
Fig. 7.13 Bilateral cleft lip (two-stage reconstruction): (a) preoperative view of bilateral cleft with severe protrusion
of premaxilla; (b) right side reconstruction; (c) bilateral reconstruction completed

7.8.3.4 Postoperative Care

Postoperatively the airway maintaining is important, and infants are kept in soft arm
restraints and feeded at the same postoperative day [1, 6]. Suture line care consists of
regular cleansing and treatment with antibiotic ointment [1, 6, 16]. Sutures are removed
on the fifth to seventh postoperative day; postsuture removal taping and silicone scar gel
can be used along with massage of the lip scar [1, 16].

7.8.3.5 Cleft Palate Repair

The correct time for palatal repair is still unknown [7]. There are currently two common
approaches to the timing of cleft palate repair: (a) single-stage repair around the age of
11–12 months and (b) two-stage repair, proposed by Schweckendiek and Doz, with the
soft palate repair and veloplasty performed at the time of lip adhesion or primary lip
repair (around 4–6 months), and the hard palate repaired at 18–24 months [1, 11, 27]. In
children with airway issues (Pierre Robin sequence), the surgery can be delayed until
age 14–18 months to allow further mandible growth and to decrease the chance of
postoperative airway compromise [11, 21].
Oxford palatoplasty, described by Veau, Wardill, and Kilner with two bilateral
mucoperiosteal flaps on major palatine arteries, is widely used (Fig. 7.14a–d) [1, 7, 11,
13]. In case of wide clefts, inferiorly based vomer flaps are used for closing nasal
mucosa, and intravelar veloplasty encompasses dissection and freeing of muscles from
the oral and nasal mucosa and from the posterior edge of the hard palate [11, 13].
Fig. 7.14 Cleft palate repair by V-Y palatoplasty: (a) preoperative view; (b) intraoperative markings; (c)
reconstruction of the cleft with mucoperiosteal flaps; (d) postoperative result

Furlow describes his technique of double-opposing Z-palatoplasty on both the oral

and the nasal surfaces (Fig. 7.15a, b) [1, 7, 11, 13, 14]. There are also modifications of
this technique that are successfully used [28]. It can be used to treat velopharyngeal
insufficiency [14, 28].

Fig. 7.15 Correction of subtotal cleft palate by Furlow technique: (a) preoperative view; (b) postoperative result

After the surgery the patient is placed in soft arm restraints [1, 7]. Hemostasis
should be controlled, patient should be in a supine position, and liquid feeding may be
postponed for 48 h [7, 11]. Liquid is taken for following 10 days and semisolid food for
next 3–4 weeks [7, 11, 27].
Most common complications of palatoplasty include hemorrhage, suture line
dehiscence, palatal scaring, and oronasal fistula formation [1, 7, 27]. The surgical
intervention of cleft palate repair impairs future maxillary growth (there is a higher rate
of maxillary hypoplasia following surgery of wider clefts, bilateral clefts, and
syndromic patients) [1, 7, 11].

7.8.3.6 Speech, Hearing, and Dental Care

Normal speech is the primary goal of palatoplasty [7, 11]. Abnormal coupling of the
nasal and oral cavities results in hypernasality, nasal emission, and imprecise consonant
production [1, 29]. The diagnosis and work-up of language difficulties require
involvement of the speech pathologist, audiologist, otolaryngologist, psychologist, and
pediatrician [1].
Hearing loss is a well-known complication of cleft palate, and there is a 97%
incidence of otitis media among the children with clefts younger than 24 months [7, 11,
30, 31]. These patients need ear, nose, and throat (ENT) specialist and audiological
surveillance [7, 30].
The pathogenesis of middle ear problems in cleft patients is connected to
mechanical, dynamic, infectious, and skeletal factors [30]. Tympanometry (objective
test of the middle ear function) is used to test the condition of the middle ear and is
classified as type A normal, As, B, and C [31]. Ventilation tube (grommet) insertion may
be performed during or after the palatoplasty depending on the condition of the middle
ear [30]. Cleft palate closure significantly reduces the prevalence of audiological
problems [11, 30]. A child with CL/P should attend dentist (specialist pediatric dentist)
regularly, and it is very important to keep the gingiva and teeth healthy because of the
orthodontic treatment.

7.8.4 Additional Surgery

There are several surgical procedures that are, if needed, performed from 6 months to
puberty: bone grafting, pharyngoplasty, fistuloraphy, rhinoplasty, and Le Fort
osteotomies (middle face retraction) [29, 32–41]. It is very important that the
indications are clear and to avoid over surgery.
Treatment of the alveolar cleft remains one of the most controversial topics in cleft
care with functional and aesthetic significance [1, 18, 33]. Alveolar cleft is associated
with variable anomalies in dental development [33]. If the alveolar anatomy and
presurgical molding outcome are favorable, a GPP can be performed, and if the infant is
not a candidate for GPP, alveolar bone grafting should be performed [1, 18, 33].
According to the age, treatment of alveolar cleft is divided into primary (during primary
dentition), secondary (separate operation during mixed dentition with autogenous iliac
crest cancellous graft), and late (mostly abandoned) [18, 33, 37]. Secondary bone
grafting at the time of mixed dentition remains by far the most common technique for the
treatment of the alveolar cleft (Fig. 7.16a–d) [32, 33].
Fig. 7.16 Secondary alveolar bone grafting: (a, b) harvesting of autogenous cancellous bone from anterior iliac crest;
(c) alveolar cleft reconstruction with cancellous bone graft; (d) postoperative view

The velopharynx normally separates nasopharynx from the oropharynx [7, 11, 13,
29, 34–36]. Velopharyngeal insufficiency is characterized by hypernasality and nasal air
emissions during speech production [29, 35]. Diagnosis of VPI is made by perceptual
speech assessment (the presence of hypernasality on vowel production is a hallmark)
and by instrumental assessment of VP function performed by nasoendoscopy and
multiplanar videofluoroscopy [29, 34–36].
Treatment of VPI includes nonsurgical (speech therapy, prosthetic management with
speech bulb, or palatal lift appliances) and surgical approach (palatal,
palatopharyngeal, and pharyngeal procedures) [1, 7, 29, 35]. All surgical procedures
for the management of VPI seek to reduce cross-sectional area of velopharyngeal port
and/or improve the dynamic function of the velopharyngeal valve [29, 35]. Furlow
double-opposing Z-palatoplasty is an ideal procedure for selected patient with VPI [14,
35].
Palatal fistula occurs as a result of nonrepair cleft or as a result of a breakdown
palate, it may occur in any anatomic site of the original cleft, and it may be
asymptomatic or symptomatic including speech problems and nasal regurgitation [1, 12,
37–39]. Reconstruction of fistulas is complicated, and it may involve local, palatal,
intraoral (buccal, tongue, and pharyngeal flap), and distant (microvascular) flaps (Fig.
7.17a, b) [12, 37–39].

Fig. 7.17 Hard palate fistula reconstruction: (a) two fistulous opening at the anterior part of the hard palate; (b) two-
layer reconstruction with local transposition flap

It should be performed in a two-layered fashion with minimal tension and with

avoiding of overlapping of oral and nasal suture lines [39]. Recently biomaterials such
as acellular dermal to augment palatal fistula repair are used [12].

7.8.5 Secondary Surgery

Secondary deformities mostly depend on the severity of primary defect, effectiveness of
orthodontic treatment, and the method of repair (Fig. 7.18a–e) [12, 40].
Fig. 7.18 Secondary deformities after cleft lip surgery: (a) left side nasal deformity; (b) whistle deformity after
bilateral cleft lip surgery; (c) hypertrophic lateral side of the reconstructed lip; (d) wide nasal tip after bilateral cleft lip
reconstruction; (e) patient with minimal scar after surgery of unilateral cleft lip admitted for otoplasty

Lip deformities after unilateral cleft lip repair include short, long, wide, or tight lip,
philtral column, and Cupid’s bow distortion, and vermilion deformities include thin lip,
thick lip, vermilion mismatch, and whistle deformity [6, 12, 40].
The secondary deformities after bilateral cleft lip repair may involve the lip, the
nose, and the skeleton (alveolus, premaxilla), but they are recently minimized by using
adequate surgical approach [1, 25, 40].
Repair of secondary nasal deformities is a challenge and is still best treated by
preventive surgery at the time of the primary repair [1, 25, 40, 41]. The nasal defects
are different after unilateral and bilateral cleft lip repair, and prior to the definitive
secondary rhinoplasty, the position of the premaxilla must be assessed [1, 12, 40].
Timing of cleft nasal surgery can be divided into primary (at the time of cleft surgery),
intermediate (before the patient enters the school), and secondary repairs (when the
facial growth is finished) [41].

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© Springer International Publishing AG 2017
Aleksandar M. Vlahovic and Emir Q. Haxhija, Pediatric and Adolescent Plastic Surgery for the Clinician,
DOI 10.1007/978-3-319-56004-5_8

8. Polydactyly
Aleksandar M. Vlahovic1 and Emir Q. Haxhija2
(1) Department of Plastic Surgery and Burns, Institute for Mother and Child Health
Care of Republic Serbia, University of Belgrade, New Belgrade, Serbia
(2) Department of Pediatric and Adolescent Surgery, Medical University Graz, Graz,
Austria

Keywords Polydactyly – Children – Treatment

8.1 Introduction
Congenital anomalies of the upper extremity vary from a barely noticeable to an absent
extremity [1–3]. They are noted in approximately 2 per 1000 live births, with boys
affected more commonly than girls (3:2) [2]. The diagnosis is in most cases made by
physical and radiological exam, and vascular studies are rarely indicated [1–3].
Patients with hand anomalies can have associated malformations, most often involving
the heart, kidneys, or tracheoesophageal complex [2]. Treatment of patients with
congenital hand anomalies is multidisciplinary with the primary surgical goals to
improve hand function and aesthetic appearance [2, 3].

8.2 Embryology
Around 4 weeks after fertilization, the upper limb bud appears as an oblong
ventrolateral bulge on the body wall [1–6]. The emerging limb bud is composed of
somatic lateral plate mesoderm covered by the ectoderm [2, 4]. Subsequent limb bud
growth and differentiation are controlled by distinctive region-signaling centers: apical
ectodermal ridge (AER) (proximodistal growth), Wnt (Wingless type) (dorsoventral
growth), and zone of polarizing activity (ZPA) (anteroposterior-radioulnar growth) [1,
3–5]. Signaling pathways critical to limb formation include several other factors such as
Sonic Hedgehog (Shh) protein and fibroblast growth factors (FGF) [2, 5, 7, 8]. Digits
are recognizable at 41–43 days and fully separate at 53 days of gestation [5].

8.3 Classification
Oberg and colleagues proposed a modified Swanson classification of hand anomalies,
and by this classification all hand anomalies are placed within one of three groups:
malformations (abnormal cell formation), deformations (insult to cells which have
formed normally), and dysplasias (lack of normal cell organization) [2, 3, 8].

1. Malformations

(a) Failure in axis formation and differentiation—entire upper limb

Proximal-distal outgrowth (symbrachydactyly, transverse deficiency,
intersegmental deficiency)
Radial-ulnar (anteroposterior) axis (radial longitudinal deficiency, ulnar
longitudinal deficiency, ulnar dimelia, radioulnar synostosis,
humeroradial synostosis)
Dorsal-ventral axis (nail-patella syndrome)

(b) Failure in axis formation and differentiation—hand plate

Radial-ulnar (anteroposterior) axis (radial polydactyly, triphalangeal
thumb, ulnar polydactyly)
Dorsal-ventral axis (dorsal dimelia, hypoplastic/aplastic nail)

(c) Failure in hand plate formation and differentiation—unspecified axis

Soft tissue (syndactyly, camptodactyly, trigger digits)
Skeletal deficiency (brachydactyly, clinodactyly, Kirner’s deformity,
metacarpal and carpal synostosis)
Complex (cleft hand, synpolydactyly, Apert’s hand)

2. Deformations (constriction ring syndrome)

3. Dysplasias (macrodactyly, limb hypertrophy, tumorous condition)

8.4 Polydactyly
Polydactyly is the presence of extra digits or duplication of digital parts [1, 2, 4–6,
9–11]. The pathogenesis of polydactyly is not known [11, 12]. It is easily detected, most
frequently observed congenital hand anomaly that causes cosmetic and functional
impairment ranging from minor cutaneous protuberance to complete duplication of a
limb [1, 5, 10, 11, 13]. Polydactyly can be detected by ultrasound (US) as early as 14
weeks of gestational age [9].
The true incidence of polydactyly is not known, it depends on the studied
population, and it varies from 0.3–3.6/1000 and 1.6–10.7/1000 in general population
[7, 9, 10]. The incidence of radial polydactyly varies from 0.08:1000 to 1.4:1000 1ive
births, and it represents 90% of all polydactyly cases [1, 2, 5, 8]. Polydactyly affects
Blacks more commonly than Whites [2, 9, 13]. Upper limbs are more involved than
lower limbs and right hand more than the left [9]. Preaxial polydactyly is the most
common (mostly isolated), followed by postaxial (mostly syndromic and bilateral), and
meso-axial (central) [7, 10]. Polydactyly has been associated with more than 300
diseases and syndromes (patient with atypical presentation (syndromes) should be
referred to genetics) [7, 9, 10].

8.4.1 Classification
Classification of polydactyly proposed by Temtamy-McKusick as preaxial polydactyly,
postaxial polydactyly, complex polydactyly, central polydactyly, and mixed
polydactyly (syndromic or nonsyndromic) is most widely used (Figs. 8.1a–c, 8.2a, b,
and 8.3) [5, 7, 9–12].

Fig. 8.1 Preaxial polydactyly: (a) barely noticeable deformity; (b) complex radial polydactyly including floating thumb
and hypoplastic thumb
Fig. 8.2 Postaxial polydactyly: (a) rudimentary digit; (b) fully developed digit

Fig. 8.3 Central polydactyly

There are also several classification systems of radial, central, and postaxial
polydactyly: Wassel-Flatt classification of thumb duplication, Wood and Miura
modification of Wassel-Flatt classification, Stelling and Turek classification of central
polydactyly, and Ryan classification of postaxial polydactyly [2, 5, 9, 10, 12].
Wassel-Flatt classification of radial polydactyly is based on the radiological
findings, including seven types of splitting of the thumb at different levels [1, 3, 5, 7, 9,
14]. Recently, the classification of thumb polydactyly is named Flatt classification
(Harry Wassel was a hand surgery fellow of Adrian Flatt) [4]. Wassel-Flatt types of
thumb duplication include type I (distal phalanx), type II (interphalangeal joint, IPJ),
type III (proximal phalanx), type IV (metacarpophalangeal joint, MCPJ), type V
(metacarpal, MC), type VI (carpometacarpal joint, CMCJ), and type VII (at least on
thumb is triphalangeal) [5, 7, 8, 11].
Wood and Miura presented a modification of Wassel-Flatt classification dividing
type IV thumbs into three subtypes and type VII into four subtypes [5, 8]. Zuidam et al.
proposed the Rotterdam classification system in 2008 that includes Wassel-Flatt
classification, with Buck-Gramcko and Behrens intercarpal modification and suffixes to
indicate different complex deformities (Tph, triphalangism; T, triplication; S,
symphalangism; D, duplication; H, hypoplasia) [4, 8].

8.4.2 Patient Evaluation

A thorough medical history and general physical examination has to be obtain, and both
upper limbs have to be examined from proximal to distal [3, 7].

8.4.3 Treatment Option

Surgical treatment of polydactyly seeks to remove the least functional component, to
reconstruct normal parts, and to allow normal hand function [2, 3, 5, 9, 11]. Anatomic
level of duplication, musculoskeletal components involved, stability, developmental
stage, and cosmetic outcome have to be considered carefully [1, 2, 5, 7, 9, 11–16].
Floating little fingers with narrow soft tissue stalk <2 mm can be removed early in the
newborn nursery by ligation, and simple excision is possible when there is no bone
connection and joints are stable [3, 5, 9]. Surgical treatment ideally occurs before the
supernumerary elements displace the normal elements and before fine motor skills have
developed with the abnormal anatomy (from 6 to 9 months of life, at the end of the first
year of life, or during second year of life) [5, 9, 11, 14]. Radiological examination is
usually adequate in obtaining additional preoperative information [3].

8.4.3.1 Radial Polydactyly

Regarding radial polydactyly, Wassel-Flatt type II and type IV are the most frequent [1,
7, 8, 14]. In Wassel-Flatt type II, there is a broad proximal phalanx with two (partial)
distal phalanges [2, 7, 8]. If there is an unequal duplication, the smaller thumb has to be
excised along with the part of articular surface of the proximal phalanx, preserving the
collateral ligament [2, 5, 7]. If necessary, tendon augmentation with smaller finger
tendons is performed [6]. In case of symmetrical duplication, Bilhaut-Cloquet
procedure is performed [5, 9, 14–16].
 In Wassel-Flatt type IV, there is often a hypoplastic extra thumb on the radial side [1,
5, 7, 9]. The radial thumb has to be excised similar to the technique for Wassel type II,
and the broad MC is partially excised in distal part (with asymmetric tendons realigned
in the “ulnar” thumb) (Fig. 8.4a–c) [5, 7, 9]. Deviation at the IPJ should be corrected
with a transverse wedge osteotomy [2, 7, 9].

Fig. 8.4 Reconstruction of thumb duplication by excision of the radial part of the thumb: (a) preoperative view; (b)
radiography of the thumb; (c) postoperative view

When there is minimal size mismatch between the two thumbs (Wassel-Flatt type I,
II, III and occasionally IV), the two outer halves can be joined after excising the two
inner halves longitudinally, in the Bilhaut-Cloquet operation (Fig. 8.5a–c) [2, 5, 11, 14,
16]. This procedure can be complicated by joint stiffness, growth arrest, asymmetric
growth, and longitudinal nail bed deformities (this can be avoided by Baek
modification) [2, 11, 16].
Fig. 8.5 Reconstruction of the thumb duplication (Bilhaut-Cloquet procedure): (a) preoperative finding; (b)
radiography of the thumb; (c) postoperative view

8.4.3.2 Postaxial Polydactyly

Postaxial polydactyly includes duplication of small finger of the hand [2, 5]. It has high
incidence in African and African-American population [1, 5, 6]. There are two most
common used classifications of postaxial syndactyly proposed by Stelling Turek and
Temtamy-McKusick [1, 2, 5, 7]. According to Stelling and Turek classification, there
are three types of postaxial polydactyly (type I soft tissue, type II partial duplication,
and type III complete duplication), and according to Temtamy-McKusick, there are two
types of postaxial polydactyly (A, fully developed finger; B, a rudimentary digit) [1, 2,
5, 9, 10]. Postaxial type B digits with narrow stalk can be ligated (revisions may be
necessary later in life) (Fig. 8.6a, b) [2, 5, 7, 9]. For more developed extra little finger,
surgical excision is recommended [1, 5, 7]. Postaxial type A digits are excised through
large ulnar-sided flap with zigzag incisions, spearing ulnar collateral ligament, and with
trimming of articular surface of the MC [2, 5].

Fig. 8.6 Postaxial polydactyly: (a) unsuccessful ligature of the postaxial polydactylous finger performed by
pediatrician; (b) result after excision was performed

8.4.3.3 Central Polydactyly

Central polydactyly is duplication of nonborder digits, and it is less prevalent than
radial or ulnar polydactyly [1, 5, 7, 12]. Stelling and Turek proposed classification of
central polydactyly into three types: type I with an extra soft tissue mass, type II that
includes duplication of digit or part of the digit with normal components and bifid MC
or phalanx, and type III presenting complete digit with its own MC [5, 12]. Tada et al.
divided type II into type IIA with syndactyly and type IIB without syndactyly [5].
Involved fingers are insufficient or hypoplastic, and the joints are stiff (fully developed
extra independent digits are rare) [5, 7]. Surgical treatment is complicated, and good
results are difficult to achieve (Fig. 8.7a–e) [1, 5, 7]. Mirror hand is a very rare
condition that requires hand reconstruction, making a thumb of the best finger and
creating a sufficient first web [7].
Fig. 8.7 Reconstruction of central polydactyly: (a) preoperative view; (b) preoperative radiography; (c) bifid III
metacarpal bone and extensor tendons; (d) postoperative view; (e) postoperative radiography
8.4.3.4 Postoperative Care
In the simple polydactyly, a bandage is given as in regular wound care [7]. Cast or
splint treatment is indicated when complex reconstruction is performed, and after splint
removing, hand exercises are seldom necessary [2, 7]. In polydactyly, a reoperation rate
of up to 25% has been reported, and in some cases definitive outcome can only be
assessed after growth has been completed [7, 9]. Secondary procedures include
procedures on ligaments, tendons, bones, nail deformity correction, and scar revision
[7, 9].

8.5 Symphalangism (Synostosis)

This is a union of a two or more adjacent bones, and it can be classified as true
symphalangism with normal length of digits, symbrachydactyly, and symphalangism with
other anomalies (Poland’s syndrome, Apert’s syndrome) [6, 7]. In upper extremity, it
can involve bones from distal phalanx to radius and ulna, but in most cases proximal IPJ
is involved [7, 8]. If function is normal, there is no indication for surgery and the
treatment is conservative [1, 7]. Surgical treatment depends of the type of the fusion [6,
7].

8.6 Triphalangeal Thumb

The extra middle phalange is constant finding in triphalangeal thumb (TPT), the
incidence of TPT is 1:25,000 live births, and there is family history of thumb anomalies
in two thirds of patients (Fig.8.8a–c) [7]. Surgical treatment includes excision of delta
type extra phalanx and ligament reconstruction, different types of osteotomies, soft
tissue reconstruction, and pollicization for five-fingered hand [7, 11].
Fig. 8.8 Triphalangeal thumb: (a) clinical dorsal view; (b) clinical palmar view; (c) radiography of both thumbs
revealing anomaly of the left thumb

8.7 Brachydactyly
Brachydactyly includes shortening of the digits due to abnormal development of
phalanges, metacarpals, or both, and it can occur as isolated malformation or as a part
of complex malformation syndrome (Fig. 8.9a, b) [8, 17, 18]. There are several
classification of brachydactyly based on anatomic ground [17, 18]. Surgery is rarely
indicated for minor deformities, and when it is indicated, surgery includes ligament
reconstruction, osteotomies, bone distracting, removing of delta phalanx, syndactyly
release, and bone transplantation [17, 18].
Fig. 8.9 Bilateral brachydactyly (short metacarpal bones): (a) clinical view of both hands; (b) radiography revealed
bilaterally short metacarpal bones

8.8 Kirner’s Deformity

Kirner first described this deformity in 1927 [18–20]. It presents radial and volar
bowing of the distal phalanx (usually little finger) [19, 20]. The exact etiology is not
known (suspected cartilaginous extension of the physis, L-shaped physis) [18, 19].
Diagnosis is made by clinical and radiologic evaluation [15, 21]. Treatment depends on
the degree of deformity [19].

8.9 Clinodactyly
Clinodactyly is defined as angular deformity of the digit in the coronal plane (Fig.
8.10a–c) [1, 6–8, 22, 23]. It may be isolated or may be associated with the other
congenital malformations (over 60 syndromes) [1, 6, 7, 23]. The angle of deviation
defining clinodactyly varies from 8° to 15° (more than 20° according to some authors)
[7, 23]. Clinodactyly occurs because of aberrant growth plates mostly in middle
phalanx, and the most common clinical form is radial deviation of middle phalanx of the
little finger [1, 7]. It is more aesthetic than functional problem, but in case of functional
impairment and large angulation, surgical treatment should be performed [6, 22]. There
are several treatment options such as opening or closing or reverse wedge osteotomies,
soft tissue rereleasing or tightening, and physiolysis with varying success [1, 7, 22, 23].
Postoperative immobilization depends on the used technique, and complications such as
malunion are rare in children [7].
Fig. 8.10 Thumb clinodactyly: (a, b) clinical appearance; (c) radiography of both thumbs revealed right thumb
congenital anomaly

8.10 Camptodactyly
Camptodactyly is a contracture of proximal IPJ in the anteroposterior direction [1, 6–8].
It occurs as a consequence of the imbalance of flexors and extensors or due to
circulatory disturbance, skin shortness, subcutaneous bands, and short flexors [1, 3, 7,
8]. Camptodactyly is mostly sporadic (30% of cases have familial background), fifth
finger is affected in 70% of cases, and it can be part of many syndromes [1, 3, 7].
Patients with camptodactyly can be divided into three groups: newborn (male or
female) patient, adolescent (mostly female), and patients associated with a variety of
syndromes, and there is also Foucher classification into early and stiff, early and
correctable, late and stiff, and late and correctible [6, 7]. Treatment is conservative
(splinting), and if after 3–12 months of conservative treatment an extension lag of 60°
exists, surgical treatment is indicated [1, 2, 7]. The surgical treatment includes
procedures on the skin, arthrolysis, tenotomies and tendon transfers, osteotomies, and
arthrodesis [1, 7].

8.11 Macrodactyly
Macrodactyly (“digital nerve-oriented benign neurofibroma”) is rare congenital
enlargement of one or several digits of the hands and feet with unknown etiology [2, 3,
6, 7, 14, 24, 25]. The incidence is around 0.2 per 10,000 births [17, 24]. There is slight
male predomination, it is mostly unilateral, more than one digit can be involved, and it
may be associated with various syndromes (Fig. 8.11) [1, 4, 21, 26, 27]. The finger
grows as the child grows, and some authors make a distinction between static
macrodactyly (with proportional growth) and progressive macrodactyly (with rapid
growth) of the finger [1, 6, 17, 21]. Macrodactyly never involves one single anatomic
unit (finger) of the hand, and the overgrowth components are the soft tissues
(hypertrophies of other structures are secondary effects) [17]. Diagnostic procedures
includes radiography, computerized tomography (CT), magnetic resonance imaging
(MRI), and in some cases angiography and lymphography [27]. Surgical correction is
individualized and very complicated [1, 5, 17, 21, 24, 26, 27]. It is best performed
when the growth is finished, and it usually consists of multiple salvage procedure (such
as radical excision of the soft tissue around the digital nerves, longitudinal splitting, or
complete excision of digital nerve) or in extreme cases amputation of the digit [17, 21,
24, 25].

Fig. 8.11 Macrodactyly of the third finger

8.12 Thumb Hypoplasia

Hypoplasia of the thumb is a part of radial dysplasia and it involves all anatomical
structures (Fig. 8.12) [4–6]. It occurs as isolated deformity or with other malformations
and syndromes [1, 2, 6, 11]. The incidence of radial longitudinal deficiency is
approximately 1:30,000 live births, with same incidence among sexes [2]. Modified
Blauth classification of thumb hypoplasia includes five types in range of slight decrease
in thumb size to complete absence of thumb [1, 2, 11]. Patients with type I and mild type
II do not require surgical treatment, patient with IIIA type requires soft tissue surgery,
and patients with Blauth type IIIB, IV, and V require pollicization (index finger act as a
thumb) [2, 4, 5]. Optimal time for pollicization is the first and second year of life [2,
11].

Fig. 8.12 Hypoplastic thumb of the left hand

8.13 Congenital Constriction Band Syndrome

The incidence of congenital constriction band syndrome (CCBS) is 1 per 15,000 [1, 21,
28, 29]. There is a widely accepted opinion that the cause of constriction band is
intrauterine strips of amniotic membrane circling around the extremities [2, 3, 8, 11, 17,
28–30]. The syndactyly coexisting with constriction rings is hallmarked by a proximal
sinus over the unseparated pair of fingers, producing so-called fenestrated syndactyly
[2]. Patterson classified constriction band syndrome into simple (normal) constriction,
constriction with soft tissue distal deformity, constriction with fusion of distal parts
(acrosyndactyly), and amputation in utero, and there is also modified classification
system of upper extremity constriction bands proposed by Hennigan [8, 29, 31]. If the
constriction is mild, there is no need for surgery [1, 17]. If the edema is present distally,
it should be released as soon as possible (Fig. 8.13a–e) [17, 30, 31]. There are several
surgical procedures proposed, including the release of the constrictions, the separation
of the fenestrated syndactyly, and the treatment of the amputated digits [2, 3, 17, 29–31].
Surgery is usually performed as a single procedure or it can be performed in two stage
7 days apart [11, 28, 30, 31].

Fig. 8.13 Severe congenital constriction band reconstruction: (a, b) preoperative view with distal edema; (c)
reconstruction with local flaps; (d, e) postoperative result

8.14 Congenial Trigger Thumb

Pediatric trigger thumb is one of the most common pediatric hand problems in practice
[17, 32–34]. It represents a stenosing tenovaginitis of the flexor pollicis longus (FPL)
tendon within its fibro-osseous tunnel, with the obstruction to tendon glide occurring at
the A1 pulley (Notta node) [1, 17, 32–34]. Nonpainful triggering may be safely
observed, with possible spontaneous resolution, and surgery is advised for persistent
painful episodes of triggering (for more than 3 months) [17, 32–34].

References
1. Choi M, Sharma S, Louie O. Congenital hand abnormalities. In: Thorne H, Beasley RW, Aston SJ, Bartlett SP,
Gurtner GC, Spear SL, editors. Grabb and Smith’s plastic surgery. Philadelphia: Lippincott Williams & Wilkins;
2007. p. 856–63.

2. Little KJ, Cornwall R. Congenital anomalies of the hand-principles of management. Orthop Clin North Am.
2016;47(1):153–68.
[CrossRef][PubMed]

3. Tonkin M, Oberg KZ. Congenital hand I: embryology, classification, and principles. In: Neligan PC, Gurtner GC,
editors. Plastic surgery. St Louis: Elsevier, Saunders; 2013. p. 526–47.

4. Manske MC, Kennedy CD, Huang JI. Classification in brief: the Wassel classification for radial polydactyly. Clin
Orthop Relat Res. 2016 Sep 9. [Epub ahead of print].

5. Guo B, Lee SK, Paksima N. Polydactyly: a review. Bull Hosp Jt Dis. 2013;71(1):17–23.

6. Kozin SH. Upper-extremity congenital anomalies. J Bone Joint Surg Am. 2003;85:1564–76.
[CrossRef][PubMed]

7. Hovius SER. Congenital hand IV: disorders of differentiation and duplication. In: Neligan PC, editor. Plastic
surgery. St Louis: Elsevier, Saunders; 2013. p. 603–33.

8. Manske PR, Oberg KC. Classification and developmental biology of congenital anomalies of the hand and upper
extremity. J Bone Joint Surg Am. 2009;91-A(Suppl 4):3–18.
[CrossRef]

9. Faust KC, Kimbrough T, Oakes JE, Edmunds JO, Faust DC. Polydactyly of the hand. Am J Orthop (Belle Mead
NJ). 2015;44(5):E127–34.

10. Malik S. Polydactyly: phenotypes, genetics and classification. Clin Genet. 2014;85(3):203–12.
[CrossRef][PubMed]

11. Buck-Gramcko D. Congenital malformations of the hand and forearm. Chir Main. 2002;21(2):70–101.
[CrossRef][PubMed]

12. Tada K, Kurisaki E, Yonenobu K, Tsuyuguchi Y, Kawai H. Central polydactyly-a review of 12 cases and their
surgical treatment. J Hand Surg [Am]. 1982;7(5):460–5.
[CrossRef]

13. Christensen JC, Leff FB, Lepow GM, Schwartz RI, Colon PA, Arminio ST, Nixon P, Segel D, Leff S. Congenital
polydactyly and polymetatarsalia: classification, genetics, and surgical correction. 1981. J Foot Ankle Surg.
2011;50(3):336–9.
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14. Cooney WP, Wolf J, Holtkamp K, Dobyns JH. Congenital duplication of the thumb. Handchir Mikrochir Plast Chir.
2004;36(2–3):126–36.
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15. Tonkin MA. Thumb duplication: concepts and techniques. Clin Orthop Surg. 2012;4(1):1–17.
[CrossRef][PubMed][PubMedCentral]

16. Samson P, Salazard B, Magalon G. The “Bilhaut-Cloquet” technique for treatment of thumb duplication. Handchir
Mikrochir Plast Chir. 2004;36(2–3):141–5.
[PubMed]

17. Hung LK, Leung PC, Miura T. Congenital hand V: disorders of overgrowth, undergrowth, and generalized skeletal
deformities. In: Neligan PC, Gurtner GC, editors. Plastic surgery. St Louis: Elsevier, Saunders; 2013. p. 634–50.

18. Temtamy SA, Aglan MS. Brachydactyly. Orphanet J Rare Dis. 2008;13:3–15.

19. Fairbank SM, Rozen WM, Coombs CJ. The pathogenesis of Kirner’s deformity: a clinical, radiological and
histological study. J Hand Surg Eur Vol. 2015;40(6):633–7.
[CrossRef][PubMed]

20. Dykes RG. Kirner’s deformity of the little finger. J Bone Joint Surg Br. 1978;60(1):58–60.
[PubMed]

21. Krengel S, Fustes-Morales A, Carrasco D, Vázquez M, Durán-McKinster C, Ruiz-Maldonado R. Macrodactyly:

report of eight cases and review of the literature. Pediatr Dermatol. 2000;17(4):270–6.
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22. Medina JA, Lorea P, Elliot D, Foucher G. Correction of clinodactyly by early physiolysis: 6-year results. J Hand
Surg [Am]. 2016;41(6):e123–7.
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23. Piper SL, Goldfarb CA, Wall LB. Outcomes of opening wedge osteotomy to correct angular deformity in little
finger clinodactyly. J Hand Surg [Am]. 2015;40(5):908–13. e1
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24. Cerrato F, Eberlin KR, Waters P, Upton J. Presentation and treatment of macrodactyly in children. J Hand Surg
[Am]. 2013;38A:2112–23.
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26. Uemura T, Kazuki K, Okada M, Egi T, Takaoka K. A case of toe macrodactyly treated by application of a
vascularised nail graft. Br J Plast Surg. 2005;58(7):1020–4.
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27. Kotwal PP, Farooque M. Macrodactyly. J Bone Joint Surg Br. 1998;80(4):651–3.
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Habenicht R, Hulsemann W, Lohmeyer JA, Mann M. Constriction band syndrome ten-year experience with one-
28.
step correction of constriction rings by complete circular resection and linear circumferential skin closure. J Plast
Reconstr Aesthet Surg. 2013;66:1117–22.
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29. Homer LE, Mishra A, McArthur P. Amniotic constriction bands: a case series and proposed new classification
system. Hand Surg. 2015;20(1):121–6.
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30. Mutaf M, Sunay M. A new technique for correction of congenital constriction rings. Ann Plast Surg.
2006;57(6):646–52.
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31. Hung NN. Congenital constriction ring in children: sine plasty combined with removal of fibrous groove and
fasciotomy. J Child Orthop. 2012;6:189–97.
[CrossRef][PubMed][PubMedCentral]

32. Soltanian H. Tenosynovitis In: Thorne H, Beasley RW, Aston SJ, Bartlett SP, Gurtner GC, Spear SL, editors.
Philadelphia: Lippincott Williams & Wilkins; 2007. p. 826–29.

33. Akhtar S, Bradley MJ, Quinton DN, Burke FD. Management and referral for trigger finger/thumb. BMJ.
2005;331(7507):30.
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34. Schaverien MV, Godwin Y. Paediatric trigger finger: literature review and management algorithm. J Plast
Reconstr Aesthet Surg. 2011;64(5):623–31.
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© Springer International Publishing AG 2017
Aleksandar M. Vlahovic and Emir Q. Haxhija, Pediatric and Adolescent Plastic Surgery for the Clinician,
DOI 10.1007/978-3-319-56004-5_9

9. Syndactyly
Aleksandar M. Vlahovic1 and Emir Q. Haxhija2
(1) Department of Plastic Surgery and Burns, Institute for Mother and Child Health
Care of Republic Serbia, University of Belgrade, New Belgrade, Serbia
(2) Department of Pediatric and Adolescent Surgery, Medical University Graz, Graz,
Austria

Keywords Syndactyly – Children – Treatment

9.1 Introduction
Syndactyly is defined as an abnormal interconnection between adjacent digits as a
failure of differentiation of the mesenchymal structures [1, 2]. In normal anatomy, the
distal end of the web lies on the palmar side roughly at the midlevel of the proximal
phalanx [3]. Syndactyly can appear isolated, associated with other deformities in the
upper or lower extremity, with polydactyly and/or clefting, or as part of a syndrome
(Poland’s, Apert’s syndrome) [3–9]. Numerous techniques have been described for
correction of syndactyly [7, 9].

9.2 Embryology
Around the day 26 (4 weeks after fertilization) the upper limb bud appears as an oblong
ventrolateral bulge on the body wall between somites 9 and 12 [4, 5, 7, 10]. The
emerging limb bud is composed of somatic lateral plate mesoderm covered by ectoderm
[1, 4]. Subsequent limb bud growth and differentiation are controlled by distinctive
regions—signaling centers: AER, apical ectodermal ridge (proximodistal growth); Wnt,
Wingless type (dorsoventral growth); and ZPA, zone of polarizing activity
(anteroposterior-radioulnar growth) [1, 3, 4, 7]. Digits are recognizable at 41–43 days
and fully separate at 53 days [3, 10]. The process of apoptosis is needed for the
separation of the fingers (it’s mediated by bone morphogenetic protein 4—BMP-4) [3,
5]. These anomalies probably occur because of differentiation disturbances in the
developing hand plate [3, 7].

9.3 Epidemiology
Syndactyly is one of the most common congenital hand malformations with an incidence
of 1–2 per 2000 live births (most common in Caucasians) [2–4, 7–9]. About 50% of
patients with syndactylia have bilateral involvement, males are more affected than
females, and it is familial in 15–40% of cases [3, 4, 6, 7]. In isolated syndactyly, the
third and fourth web are the most commonly involved [3, 6, 8].

9.4 Classification
Syndactyly can be classified as simple involving soft tissue only (incomplete that does
not include fingertips and complete that does include fingertips), complex (with distal
bone union), and complicated (with more than only distal bone fusion) (Figs. 9.1 and
9.2) [1, 5, 6, 8]. The formal syndactyly classification of Temtamy and McKusick with
five distinct subtypes has been expanded up to nine types and numerous subtypes [7].
Fig. 9.1 Incomplete simple syndactyly of the third interdigital space
Fig. 9.2 Complete simple syndactyly of the third interdigital space

Incomplete syndactyly is presented as the fusion of the fingers proximal to the distal
phalanx [1, 3]. In the complete form of syndactyly, the nails can be separated with full
pulps of the affected fingers, or there are conjoined nails, and when fingers are of
unequal length, the longest finger will tend to bend more during growth [1, 3, 5–8].
Complex syndactyly (with distal bone fusion) can involve only two fingers when it
is recognized by a tapered distal end with inward rotation of the fingers and abnormally
ridged or confluent nails or more fingers can be involved when they are flat to very
cupped with anomalous nails, abnormal bones, and joints (Fig. 9.3a, b) [3, 6].
Complicated syndactyly is a broad category characterized by abnormal osseous
abnormalities including fusions, rudimentary bones, missing bones, abnormal joints, and
sometimes crossbones [1, 5, 6]. Thumb-index syndactyly treatment is more complicated
than finger syndactyly, and it is treated differently from other fingers [7].
Fig. 9.3 Complex syndactyly of the hand in Apert’s syndrome: (a) clinical appearance; (b) radiography of both hands
revealing fusion of distal bones

9.5 Patient Presentation

Syndactyly can be present in a large variety of forms, and that is why good preoperative
planning and thorough discussion with family are important [1–8]. The fingers can be
normal or anomalous, and the number of affected fingers can differ, as well as the nature
of involvement [1–7, 11–17]. In complicated syndactylies, careful assessment of each
individual finger is necessary before the surgery [1, 3, 16]. Radiography of the affected
hand should be performed to exclude skeletal deformities. Timing of surgery depends on
the fingers involved and whether the syndactyly is cutaneous or not [1–8].
Early indications for surgery are thumb-index syndactyly, syndactylies between
fingers of unequal length, and complex or complicated acrosyndactyly in order to
prevent bone and joint deformities and asymmetric growth (Figs. 9.4a–c and 9.5a, b) [3,
6, 7].
Fig. 9.4 Early indications for syndactyly correction: (a) flexion deformity of the middle finger caused by the fourth
finger; (b) radiographic finding; (c) surgical treatment
Fig. 9.5 Fenestrated syndactyly: (a) syndactyly of the distal part of the fingers with preoperative view; (b)
postoperative result

Simple syndactyly release can be performed in children older than 6 months, but
most surgeons will operate on these children between 1 and 2 years to prevent problems
with anesthesia [3, 6, 7].

9.6 Treatment/Surgical Technique

The release of syndactyly by classical technique implicates separation of the conjoined
skin and subcutaneous tissue preserving integrity of the neurovascular bundles [4, 9,
12]. Techniques for separation of fingers include commissure reconstruction, digital
incisions, and ways to outcome the lack of skin (Fig. 9.6a–h) [4, 6, 8]. The nail fusion
can be corrected by opposing Z-flaps as described by Buck-Gramcko [4]. For safety
reasons, two adjacent complete syndactylous fingers are not separated at the same time
as vascular anatomy can be different [3, 4, 6]. In bilateral involvement, both hands
should be operated at the same time [6].
Fig. 9.6 Surgical treatment of syndactyly: (a) preoperative dorsal view; (b) preoperative palmar view; (c)
preoperative radiography; (d–f) incision markings and incisions; (g, h) result

9.6.1 Digital Incisions

Separation is carried out via dorsal and standard volar zigzag incisions, creating
interdigitating flaps distal to the flap for web reconstruction and providing coverage at
the proximal IPJ [4, 14]. The triangular flaps can either be fully or partially
interdigitated depending on the extent of the skin shortage [12, 15]. Some authors used
modified zigzag incisions as longer, narrower, angled flaps or rectangular flaps joined
with straight-line incisions [8, 14–16]. Digital defatting is also very important in
surgical procedure to decrease the digital volume [8, 14]. It should be performed
carefully, under loupe magnification, and there will be no consequences in flap
vascularization or digital contour [14].

9.6.2 Creation of a Web

The key area of reconstruction in a syndactyly separation is the creation of the web
using a local skin flap [1, 3–8, 16]. The web in syndactyly can basically be created by a
dorsal flap, a palmar flap, or a combination of both [3, 4, 8, 14, 16]. In an effort to
prevent skin grafts, dorsal metacarpal flaps have been used to create the web, followed
by primary closure of the fingers (extended dorsal trilobed flap, V-Y dorsal MC flap,
island commissural flaps) [8, 9, 11, 17]. For the first web, different kinds of Z-flaps,
transposition flaps from the dorsum of the hand and index or thumb, and pedicled flaps
and free flaps for the larger defects have been advocated [2].

9.6.3 Lateral Soft Tissue Defects

Digits in regular simple syndactyly offer less skin than needed for separated digits
because the skin is not stretched between the fingers [8]. The residual defects on medial
side of the fingers are usually covered by full-thickness skin grafts (FTSG) (less often
by split-thickness skin grafts—STSG) [2–4, 14]. There is tendency for drawback of skin
grafting because of several disadvantages (more time for surgery and healing,
hyperpigmentation and hair growth, donor site scars) [2, 14]. There are several
techniques for creating a new commissural flap [8, 9]. The tissue expansion has also
been used, but it is mostly abandoned because of two-stage treatment and high rate of
complications [8, 9, 14, 16].

9.6.4 Separation of the Fingertips

If the nails are separately developed in complete syndactyly, the pulp can be separated
and the skin advanced to the rim (Buck-Gramcko technique) [4, 7]. Simple separation is
often still possible if the nails are partly fused, and if the nails are conjoined, then nail
wall reconstruction with flaps is necessary [4, 6, 7, 10, 16].

9.7 Postoperative Care

The dressings usually consist of paraffin gauze, applied on the wounds and grafts,
followed by moist dressings, wet cotton wool, and an elastic bandage or above-elbow
soft cast [3, 6, 7, 14, 16]. The first dressing and wound inspection differs among the
authors (after 5–7 days or after 3 weeks), but it is best performed during the first 2
weeks after surgery [3, 7, 11, 14, 15]. Active motion, scar space and web massage,
silicone scar pad, and occupational therapy are part of postoperative care [7].
9.8 Complications
Early complications mostly occur due to vascular compromise [7]. Infection with skin
flaps and skin graft necrosis should be treated promptly [3, 7]. Web creep has been
reported to be the most common late complication [3, 14]. Complications that occur by
using skin grafts (skin contracture, hyperpigmentation, hypertrophic scaring) can be
avoided by using dorsal metacarpal flaps or extended dorsal interdigital flaps and
primary closure (Fig. 9.7a–c) [2, 3, 14]. Bony and nail deformities can also occur [7].

Fig. 9.7 Late complications after surgical treatment of syndactyly

Complications such as flexion contractures, rotation and lateral deviation, joint

instabilities, and insufficient functioning of the individual separated fingers also occur,
and that is why these patients should be followed till the end of growth [1, 3, 8, 11].

9.9 Secondary Procedures

Secondary procedures involve scar contracture release and re-deepening of webs [2, 7,
14]. In complicated syndactylies, ligament reconstructions, osteotomies, chondrodesis,
and arthrodeses can be necessary [1–3, 6].

9.10 Poland’s Syndrome

Alfred Poland had described a chest and hand deformity in 1841, and Patrick Clarkson
named it Poland’s syndrome in 1962 [18, 19]. The incidence of Poland’s syndrome
varies from 1:7000 to 1:100,000 [3, 13]. Poland’s syndrome is mostly sporadic, with
male predominance (3:1) and right side more involved [13, 20]. In familial form, both
sides and sexes are equally affected [3, 13, 20].
In Poland’s syndrome, patients present with a broad range of ipsilateral trunk, upper
limb, and hand anomalies [1, 3, 13, 18, 20]. It is characterized in most cases by partial
or complete underdevelopment or absence of sternocostal head of pectoralis major
muscle and hypoplastic arm and hypoplastic hand with a simple syndactyly or
symbrachydactyly [1, 13, 18–20]. The etiology of Poland’s syndrome is unknown, and it
occurs most probably because of interruption of the embryonic blood supply to the
upper limb [3, 13, 20]. Hand anomalies in Poland’s syndrome are classified into seven
types ranging from normal hand to phocomelia-like deficiency with a significant number
of patients having normal or near-normal hand [3, 11, 13].
For syndactyly and symbrachydactyly in Poland’s syndrome surgical treatment,
postoperative care, outcome, and complications are similar to syndactyly and
symbrachydactyly (Fig. 9.8a–d) [1, 3, 11]. In syndactylous hypoplastic fingers, the
separated individual fingers can be less functional than before the operation [3].
Fig. 9.8 Brachysyndactyly in Poland’s syndrome: (a) preoperative view; (b) radiography revealing anomalous fingers;
(c) zig-zag incisions and web construction; (d) postoperative result

9.11 Apert’s Syndrome

Apert’s syndrome is an autosomal dominant (AD) condition with the incidence of
1:65,000, caused by a mutation in the gene encoding fibroblast growth factor receptor 2
(FGFR2), characterized by craniosynostosis combined with acrosyndactyly and other
deformation of all five digits [1, 3, 5, 6, 21, 22].
Hand anomalies in Apert’s syndrome are classified by Upton (purely descriptive)
and by van Heest et al. (guides surgical treatment) [1, 3, 5, 6, 22, 23]. In type I by Upton
(“spade” hand), there is a radially deviated small thumb with a shallow first web; the
index, long, and ring fingers display complete or complex syndactyly; and the little
finger is attached by a simple complete or incomplete syndactyly [3, 5, 22, 23]. In type
II (“mitten” or “spoon” hand), there is a radially deviated thumb with simple syndactyly
of the first web, and second to fourth fingers are distally fused, creating a curve in the
palm with divergent metacarpals, with the little finger like in Upton I type [3, 5, 23]. In
type III hand (“rosebud” hand), there is complex syndactyly; the thumb and index, long,
and ring fingers are distally fused with synostosis; the little finger is united to the ring
finger by simple complete syndactyly; and the nail is broad and conjoined and overlies
the bony fusion between the first to four digits (Fig. 9.9a–c) [2–4, 23]. Symphalangism
at the proximal interphalangeal joints of the index, long, and ring finger is a persistent
finding [22].

Fig. 9.9 Different types of syndactyly in Apert’s syndrome: (a) type I (“spade hand”); (b) type II (“spoon hand”); (c)
type III (“rosebud hand”)

Patients with Apert’s syndrome are usually treated in major craniofacial centers [1,
21]. Separation and correction of the thumb and other fingers in as few operations as
possible are surgical goals [3]. There is a classical approach to the treatment of
pansyndactyly in Apert’s syndrome, with hand surgery performed at most cases at 9
months of age and 6 months after the treatment of craniostenosis [1, 6, 22].
Corrective hand surgery can be performed in three steps, and the procedure is
performed bilaterally [22]. First procedure may include correction of clinodactyly
(there are opinions that thumb clinodactyly does not influence on thumb function) and
opening of the fourth space, [3, 22, 23]. Fingers with symphalangism can be separated
by zigzag or straight incisions, and residual defects are covered with skin grafts [3, 22].
In the second and third procedures, the second web separation is performed, and if
needed removal of the fourth digit and MC bone is performed [18]. Nail walls can be
reconstructed with flaps from the adjacent finger pulp [22].
Fearon suggested a two-stage approach for pansyndactyly in Apert’s syndrome
realizing all fingers in two operations on all four extremities (first operation at 9–12
months and second 3 months later) with straight-line release of fingers (FTSG used for
covering skin gap in proximal third or half of the finger), equal length dorsal and volar
flaps for web space creation, and performance of midphalangeal osteotomies for older
children (9–12 years) [21].
Harvey et al. performed preoperative imaging by bilateral CT angiography, enabling
visualization of arterial anatomy, and this information is used by the surgeon to plan and
execute single-stage syndactyly release of the entire hand, with dorsal rectangular flaps,
straight-line incisions, and full-thickness skin grafts [23]. Tissue expansion for Apert’s
syndactyly in theory would seem ideally suited, but it is not predictable, and there are
unacceptable rates of complications [14, 24]. Absorbable skin sutures are placed for
flaps and grafts [22].
Skin grafts are prone to maceration and infection (up to 22% partial skin graft loss),
and secondary web contractures are common, with remarkable functional improvement
in the hand despite poor joint motion [3, 22]. Secondary operations include web
deepening and wedge osteotomies to correct the deviation [3].

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2003;112(1):1–12; discussion 13–9.

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© Springer International Publishing AG 2017
Aleksandar M. Vlahovic and Emir Q. Haxhija, Pediatric and Adolescent Plastic Surgery for the Clinician,
DOI 10.1007/978-3-319-56004-5_10

10. Pigment Lesions

Aleksandar M. Vlahovic1 and Emir Q. Haxhija2
(1) Department of Plastic Surgery and Burns, Institute for Mother and Child Health
Care of Republic Serbia, University of Belgrade, New Belgrade, Serbia
(2) Department of Pediatric and Adolescent Surgery, Medical University Graz, Graz,
Austria

Keywords Pigmented lesion – Children – Treatment

10.1 Introduction
The skin is comprised of two basic layers: the epidermis that contains four major cell
types, keratinocytes, melanocytes, Langerhans cells, and Merkel cells, and dermis that
contains nerves, blood vessels, lymphatics, muscle fibers, pilosebaceous, and apocrine
and eccrine units [1]. Melanocytic nevi are moles with localized proliferations of
pigment cells (melanocytes) in the skin [1, 2]. The exact mechanism how nevi develop
in the skin is not known [2]. In children, pigmented lesions can pose significant
diagnostic and therapeutic challenges [2–4]. By the end of 10 years, nevus count reaches
more than 30 in white (5–10 in African, Asian, and Native American population) [3].
Melanocytic nevi presented at birth are named congenital melanocytic nevi (CMN), and
all other nevi developed after birth are named acquired melanocytic nevi (AMN) (Fig.
10.1) [2–7]. Melanoma is extremely rare in childhood, but there is tendency of rising
incidence [2–4]. Ultraviolet (UV) light represents the primary environmental factor,
increasing the number of total body nevi which positively correlates with melanoma
risk [3, 4].
Fig. 10.1 Acquired melanocytic naevus

10.2 Congenital Melanocytic Nevi

Congenital melanocytic nevi (CMN) are classically defined as being present at birth,
and they represent a disruption of the normal migration, proliferation, and differentiation
of melanoblasts [2–6]. In the developing fetus, congenital melanocytic nevi CMN are
thought to arise between the 5th and 24th week of gestation [2, 5].
The classification of CMN has been standardized and updated in 2012, based on
size, location, number of satellite nevi, and additional morphologic characteristics [3, 7,
8]. The following characteristics of nevi are included: a) Size of CMN projected adult
size: Small < 1.5 cm; Medium—M1: 1.5–10 cm, M2 > 10–20 cm; Large—(L1: >20–30
cm, L2: >30–40 cm); Giant—G1 > 40–60 cm, G2 > 60 cm; Multiple medium CMN—3
or more medium CMN without single, predominant CMN; b) Location of CMN: head,
trunk, and extremities with subgroups; c) Number of satellite nevi: S0, no satellites S1 <
20 satellites, S2, 20–50 satellites, S3 > 50 satellites; and d) Additional morphologic
characteristics: color, rugosity, nodules, and hairiness (Fig. 10.2a–d) [4, 8].
Approximately 2–3% of the neonates have CMN [3]. The incidence of large CMN is
estimated at 1 in 20,000–50,000 live births [2, 3, 6, 9, 10]. The very large (“bathing
trunk”) CMN occur in approximately 1 in 500,000 live births [1, 11, 12].
Fig. 10.2 Congenital melanocytic neavi: (a) small; (b) medium; (c) large; (d) giant congenital melanocytic nevus

CMN (small to medium sized) are usually present as round to oval pigmented
lesions, with color that ranges from tan to black, with clear borders, and hypertrichosis
[2, 3, 5]. Large CMN usually have irregular borders, multicolored pigment pattern, and
rugose texture [1–5]; CMN undergo morphologic changes over time and become less or
more pigmented, rugose, and verrucous and develop hypertrichosis [1, 3–6]. The
evolution of CMN is especially intensive during first months of life [3, 6]. On
dermatoscopy, CMN demonstrate reticular, globular, or reticuloglobular pattern [5].
Histologic findings of CMN include involvement by nevus cells of deep dermal
appendages, neurovascular structures, deep dermis and subcutaneous fat, infiltration of
nevus cells between the collagen bundles, and nevus cell-poor epidermal zone [5, 6].
The differential diagnosis for CMN includes AMN, epidermal nevus, nevus sebaceous,
café au lait spot, and Mongolian spot [1, 5].
The exact risk for development of melanoma in CMN is not clear [5, 6]. The
lifetime risk for melanoma arising in small CMN is between 0 and 5% (similar to
AMN), and the risk for melanoma in large CMN is estimated to be between 5 and 10%
[1, 3–6, 11, 13]. If there is CMN of 40–60 cm diameter in adult size, with a truncal
location, numerous satellites nevi, and involvement of the leptomeninges, melanoma risk
is high [2, 6]. The other features that indicate biopsy or excision include ulceration,
uneven pigmentation, a change in shape, and nodularity [1]. Magnetic resonance imaging
(MRI) screening of the central nervous system (CNS) early in life is recommended for
the patients with high risk for malignant transformation [3, 5, 12].
Neurocutaneous melanosis (NCM) is characterized by an excess deposition of
melanocytes along the leptomeninges [1–7]. Congenital nevus-like nevus (CNLN) or
“tardive” becomes evident during infancy or early childhood with features
indistinguishable from those of true CMN [3, 13]. These nevi measuring 1.5 cm or
larger are found in 1–4% of older children and adults [3, 6].

10.2.1 Treatment of CMN

There are many different strategies for treatment of patients with CMN with an ultimate
goal that the clear, deep margin of resection has to be achieved [1–3, 5, 6, 8–16].
Approximately half of the malignancies that have occurred in large CMN developed in
the first 3–5 years of life, and therefore, decisions regarding prophylactic removal
should be made early in life [3, 6, 11].
Treatment decisions should be tailored to individual patients, taking into account
lesion size, location, appearance, and leptomeningeal involvement [2, 3]. One-stage
excision with primary closure is the mainstay of surgical management of small CMN
(single easily excisable and facial CMN are offered surgery for cosmetic reasons) (Fig.
10.3a–c) [3, 6, 11]. Routine prophylactic excision of small and medium CMN is not
recommended [2, 3, 6].
Fig. 10.3 Excision of congenital melanocytic nevus of the right femoral region: (a) preoperative view; (b) complete
excision; (c) the result

Many strategies have been advocated for the removal and reconstruction of large
and giant CMN such as serial excision, tissue expansion, and excision with skin grafting
and skin substitutes, sole or in combination [1–6, 8–16]. The guiding principles are
elimination (reduction) of the risk for malignant transformation, preservation of
function, and improving cosmetics [1, 3, 6, 13].
The juvenile skin does not have the laxity of an adult, making local flaps difficult to
use in children [5]. Staged excision down to fascia, with a flap reconstruction
(advancement, transposition, or rotational), after tissue expansion of uninvolved skin,
represents the primary surgical approach for removal of large CMN (Fig. 10.4a, b) [3,
5, 6]. The donor site must match with color, texture, and contour of recipient site, and it
has to be free of infection or scars [5]. Tissue expansion works better in infant and
young child; however, some locations are not suitable for this technique (it is associated
with more morbidity and a higher failure rate in the extremities) [15].
Fig. 10.4 Treatment of congenital melanocytic neavus with tissue expanders: (a) two expanders in lumbar region; (b)
expander protrusion through wound dehiscence

CMN can be managed effectively by serial excision (carefully in sensitive areas

like periorbital or perioral because of possible distortion of these structures) with only
one scar as a final result, avoiding morbidity from skin grafting and complications
following tissue expansion [5, 16].
Excision and split-thickness skin graft (STSG) have usually poor aesthetic and
functional outcome (back of the trunk is the only exception) (Fig. 10.5a–d) [3, 5, 16]. In
the periorbital region and ear, full-thickness skin graft provide good match in both color
and thickness for the recipient area [14]. Expanded full-thickness skin graft (FTSG) is
an excellent choice for coverage of the dorsum of the hand and foot [5]. Other options
for covering the wound after excision of giant CMN are autologous cultured skin
substitutes (CSS) and artificial skin [11, 12].
Fig. 10.5 Treatment of congenital melanocytic neavus with complete excision and placement of full-thickness skin
grafts: (a) preoperative view; (b) skin grafts placement; (c, d) 6 months postoperatively

Techniques such as curettage, dermabrasion, and laser therapy are used when
excision is not feasible, but in that case there is a problem with recurrence because only
the epidermis and upper pole of dermis are removed and nevomelanocytes remain in the
dermis [3, 6]. Laser treatment is mostly used for treatment of facial CMN that are not
amenable for surgical excision [6].
The optimal choice of treatment of CMN varies by body region [5, 10, 14]. Tissue
expansion as a single or serial procedure is treatment of choice for scalp region [10,
11]. At the face, subunit principle has to be followed [5, 10]. For periorbital region,
full-thickness graft and expanded full-thickness graft are used, leaving the residual brow
nevus [5, 14].
Tissue expansion is very effective for anterior trunk, but it should not be used in the
region of breast in females until the growth is finished, and for giant CMN of the back,
flanks, and abdomen, excision and split-thickness non-meshed graft give satisfactory
result [5, 11].
For large and giant nevi on extremities, expanded local transposition flaps are used
with best results [15]. Partial excision and skin grafting are proposed by some authors
for the larger lesions distal to the knee or elbow, but after satisfactory early results
pigmented cells “bleed” through the graft [5, 8, 15]. Artificial skin can also be used for
covering of large full-thickness skin defects after excision of CMN [12].
Spontaneous lightening of CMN has been reported, and according to this sustaining
of surgical treatment especially in the head region is advocated [3, 9].

10.3 Acquired Melanocytic Nevi

Acquired melanocytic nevi (AMN) are benign lesions and the most common type of
melanocytic nevus [2]. Melanocytic nevi in children and adolescents have morphologic
features and behavior that differ from nevi in adults [2–4]. Two pathways for evolution
of melanocytic nevi are described: constitutional that gives rise to nevi with globular
pattern (children, especially on the head and neck, and trunk), with predominantly
dermal growth, and the acquired pathway that results in nevi with reticular pattern with
predominantly junctional growth (especially in extremities) and most often develops
during adulthood [3].
Ultraviolet light is the primary environmental influence on the number and location
of nevi that develop during childhood [2–4]. Children with lightly pigmented skin have
higher nevus counts, and several genes have been associated with nevus number and
pattern [3, 4]. Most AMN appear gradually as children age (by 11–12 years of age);
however, multiple nevi may appear suddenly or become more prominent in response to
a variety of factors [2–4]. Atypical nevi usually begin to appear around puberty [3, 4].
A lifetime risk that any acquired mole transforms into melanoma is approximately
1:10,000 [3, 4]. There is increased risk for melanoma if there are more than 50 lesions,
in case of presence of clinically atypical nevi, family history of melanoma, excessive
sun exposure, lightly pigmented skin, and/or red hair, and these patients should be
followed periodically with total body skin examination [2–4].
The key component of the ABCDE system (asymmetry, border irregularity, color
variability, diameter > 6 mm, and evolving) that describes evolution of pigmented
lesions is usually connected with histologic atypia in adults, but rarely in children [3].
Dermoscopic monitoring with close-up photographs is very helpful to distinguish
melanocytic versus nonmelanocytic lesions and benign from malignant melanocytic
lesions (to avoid unnecessary surgery) [2, 4]. Scalp, genital, and acral nevi
(longitudinal melanonychia) do not exhibit worrisome behavior in children (Fig. 10.6a–
d) [3]. Many children, especially during early adolescence, want nevi removed, and it
should be performed only if there is psychosocial problem, atypical appearance, or
irritation [2].

Fig. 10.6 Melanonychia of the right great toe: (a) preoperative view; (b) pigmented lesion revealed; (c) excision of
the leasion; (d) postoperative view with nail left in place

10.4 Speckled Lentiginous Nevus

Speckled lentiginous nevus (SpLN), nevus spilus, is considered to represent subtype of
CMN [3, 6]. There are two distinct variants of SpLN: those with exclusively macular
speckles and those with papular as well as macular speckles [6]. Large SpLN usually
have sharp demarcation in the midline (reflecting embryonic development) [2, 3].
Different pigmented lesion can be superimposed with SpLN such as: café au lait,
lentigines or banal-acquired nevi, Spitz, and blue nevi [2, 3, 6]. The risk of melanoma
arising within a lesion is proportional to the size of SpLN [3].

10.5 Halo Nevus

A halo nevus is a benign melanocytic nevus surrounded by depigmentation with the
incidence of about 5% among the children (Fig. 10.7a, b) [2, 17]. It appears usually as a
single lesion, with the most common localization on the trunk [2]. Depigmentation is a
result of immunologic destruction of melanocytes [2, 4, 17]. Halo nevi arise from a
variety of histologic types of nevi (most of which are not dysplastic), and rarely it can
be seen in patients with melanoma, multiple dysplastic nevi, and vitiligo [2, 17]. Most
halo nevi regress over a period of months to years, leaving a depigmented macule [2,
4]. The excision is recommended only when clinical and/or pathologic features
concerning malignancy are present [2, 4, 17].

Fig. 10.7 Halo nevi: (a, b) different sizes of depigmentation zone

10.6 “Café au lait” Macula

This is benign congenital macula with different color and size, most commonly seen
after 2 years of life, and may occur as a part of neurofibromatosis or other syndromes
(Fig. 10.8a, b) [18].
Fig. 10.8 Café au lait at gluteal region

10.7 Congenital Dermal Melanocytosis

The blue nevus, Mongolian spots, and nevi of Ota and Ito may represent melanocytes
that have not migrated completely from the neural crest to the epidermis during the
embryonic stage [2]. Blue nevus is melanocytic nevus derived from dendritic
melanocytes in the dermis, and it arises during early childhood and adolescence as
regular-shaped papules with melanoma risk especially for lesions located on the scalp
(Fig. 10.9a, b) [2, 6, 19]. A Mongolian spot is benign congenital birthmark (dermal
melanocytosis) with irregular shape, most commonly located in the lumbosacral and
gluteal area (Fig. 10.10) [19]. Nevus of Ota is blue or gray patch benign lesion that
occurs in the distribution of the branches of the trigeminal nerve, with onset at birth or
around puberty [2, 19]. Nevus of Ito frequently occurs with nevus of Ota, and it is
located on the shoulder area [2].
Fig. 10.9 Blue nevus: (a) right deltoid region localization; (b) large blue nevus at scalp region

Fig. 10.10 Mongolian spot of the lumbar region

10.8 Spitz Nevus

Spitz nevus (spindle cell nevus) is benign, melanocytic nevus described by Sophie Spitz
in 1948 [2, 20]. It occurs more common in children than adults, and the incidence is
unknown [2–4]. The vast majority of Spitz nevi begin as small, well-circumscribed,
pink papules that grow rapidly [2, 3]. It has higher cytologic atypia compared to other
nevi [4]. Spitz nevi occur commonly in the head and neck region (followed by torso and
extremities) [2].
Biopsy is indicated in any age for Spitz nevi with atypical features (size more than
8–10 mm, excessive growth, asymmetry, or ulceration) or if they arise in postpubertal
patients with the same techniques and management principles as to atypical melanocytic
nevi [3, 4, 18]. If the excision is incomplete, and the histology finding confirms Spitz
nevus, there is no need for re-excision in children [3]. An atypical spitzoid neoplasm
(ASN) represents a type of melanocytic lesion with borderline histologic features
indistinguishable from those of melanoma and an uncertain malignant potential [2, 3].
 Spitz nevi, ASN, and spitzoid melanoma belong to spectrum that is biologically
distinct from banal nevi, dysplastic nevi, and melanoma, with specific molecular
markers, and several immunohistochemical stains proposed for use in assessing these
lesions [2, 3, 19, 21].

10.9 Atypical Melanocytic Nevus

Atypical melanocytic nevi are acquired usually sporadic lesions smooth, 5 and 10 mm
in size, may have irregular borders, vary in color (brown to black to pink), and tend to
occur in sun-exposed areas [1, 2, 4, 21, 22]. In children, changing atypical nevi should
be sampled and examined microscopically [2]. Children and adults (2% normal
population) can have “atypical mole syndrome” that includes 100 or more melanocytic
nevi, one or more melanocytic nevi with at least 8 mm diameter, and one or more
melanocytic nevi with atypical features, and they are at increased risk for development
of melanoma (Fig. 10.11) [2, 22].

Fig. 10.11 Melanocytic syndrome

10.10 Melanoma
Melanoma in children is rare with approximately 0.5% of melanomas occurring in the
individuals younger than 20 years of age and less than 0.05% in patients younger than 10
years of age [4, 19, 23–25]. There is a rising incidence of melanoma in adolescents and
adults in a past few decades [3, 4, 21, 24]. The term pediatric melanoma encompasses
diagnostically and biologically heterogeneous group of patients aged less than 18 years
at diagnosis [19]. Melanoma is relatively common tumor in older adolescents, and it
carries a similar prognosis and clinical course as adult melanoma [19, 24]. Generally,
melanoma is morphologically classified as lentigo maligna, superficial spreading,
nodular, and acral lentiginous type [22]. Lesions of “adult type” are more frequent in
pubertal and postpubertal years, and there are also prognostic differences between
histologically similar tumors in very young and older patients [2].
Pediatric melanoma can be divided into four age groups: congenital, infantile, birth
to 1 year, childhood, 1 year to puberty, and adolescent [24]. Congenital and
transplacental melanomas describe spreading of melanoma from the mother to placenta
and the fetus [23, 24].
A family history of melanoma and the presence of multiple melanocytic nevi
represent important risk factors for the development of melanoma in patients under 15
years of age [4, 19, 25]. Amelanosis, bleeding, color uniformity, diameter variability,
and de novo development are the most common pediatric melanoma characteristics [2,
24]. Cutaneous childhood melanoma can be divided also into lesions occurring in the
setting of CMN and lesions unassociated with CMN [21]. Melanoma arising in patients
with giant CMN often develops in puberty, while conventional superficial spreading
melanoma is almost exclusively a disease of white adolescents [13, 22].
There are two major groups of cutaneous melanocytic proliferation arising in the
setting of a CMN in childhood: atypical junctional proliferation in CMN and nodular
dermal proliferation [23]. Melanomas unassociated with CMN tend to be amelanotic or
nodular, presenting as a rapidly growing “bump” that may mimic a pyogenic granuloma,
keloid, or wart rather than a changing nevus (Fig. 10.12a–d) [3, 23]. Melanoma can be
confused with other pigmented or vascular lesions [2, 24]. They are usually not present
with the traditional ABCDE criteria [23]. Concern about new or changing melanocytic
nevus in a child often prompts parents and pediatrician to request evaluation by a
dermatologist or surgeon [3]. Superficial spreading melanoma becomes after 10 years
an increasingly frequent diagnosis, and the lesion typically occurs in the intermittently
sun-exposed skin of the trunk and proximal extremities [23]. The staging system for
pediatric melanoma is the same as adult melanoma, and the approach is similar as for
the adults [23, 24].
Fig. 10.12 Melanoma of the crural region: (a) preoperative picture made by parents before primary surgery; (b)
histopathology revealed presence of melanoma—postoperative scar; (c) wide excision at reoperation; (d) skin graft
placement

Surgical excision is therapy of choice, with adjunctive therapies that include

chemotherapy, radiation therapy, and immunotherapy [2, 4, 24]. The use of sentinel
lymph node (SLN) biopsy has increased despite no clinical or prognostic evidence to
support it [2, 19, 26, 27]. Survival in pediatric patients is generally similar to adult
patients [24].

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© Springer International Publishing AG 2017
Aleksandar M. Vlahovic and Emir Q. Haxhija, Pediatric and Adolescent Plastic Surgery for the Clinician,
DOI 10.1007/978-3-319-56004-5_11

11. Benign Skin and Soft Tissue Tumors

Aleksandar M. Vlahovic1 and Emir Q. Haxhija2
(1) Department of Plastic Surgery and Burns, Institute for Mother and Child Health
Care of Republic Serbia, University of Belgrade, New Belgrade, Serbia
(2) Department of Pediatric and Adolescent Surgery, Medical University Graz, Graz,
Austria

Keywords Benign soft tissue tumors – Children – Treatment

11.1 Introduction
Pediatric tumors are highly varied in origin and clinical presentation [1]. Benign skin
and skin-associated soft tissue tumors can be classified simply into those that are
epithelial, cutaneous appendage, neural crest, or mesenchymal origin and inflamatory
lesions [2, 3]. From radiological point of view regarding imaging features, they can be
divided into tumors of the epidermis and dermis, tumors of subcutaneous tissue, and
tumors associated with fascia overlying the muscle, and there are also metastatic
tumors, other tumors and tumorlike lesions, and inflamatory lesions [3]. Pediatric
masses can have their origin due to errors along the pathways of embryological
development [2]. Possibility that benign tumors can have malignant alteration has
always to be considered [2, 4, 5].
Pediatric skin and soft tissue tumors are not uncommon [1, 2, 5–9]. History and
thorough clinical examination, child age at presentation, location of the tumor, and rate
of growth are essential diagnostic criteria [4, 6–8]. Clinical examination must asses the
site, number of lesions, consistency (shape, size, elevation status, surface status, color,
hardness, alignment), mobility, subjective symptoms of patient, and the time course of
the appearance of the lesion [1, 4, 8]. The imaging of soft tissue tumors can be
unspecific, and radiography, ultrasonography (US) including Doppler, computerized
tomography (CT), and magnetic resonace imaging (MRI) usually provide much
information about the characteristics of a mass [1, 3, 4, 8]. Benign and malignant tumors
can be difficult to distinguish in children [4, 6]. If diagnostic procedures are not
adequate to establish the diagnosis, after careful inspection and palpation, the biopsy
should be performed [1, 4, 8]. Diagnosis and management of cutaneous defects that
occur during embryogenesis are very difficult, and they require appropriate physical
exam, laboratory testing, and often imaging studies [9].

11.2 Developmental Defects

11.2.1 Cranial Defects
Midline diverticulum of the dura normally projects anteriorly (fonticulus frontonasalis)
and anteroinferiorly (prenasal space), and they closed during normal development
leaving frontonasal suture and foramen cecum [2, 10]. If this dural diverticulum stays
adherent to ectoderm, anomalies such as dermoid and epidermoid cyst, nasal dermal
sinus, nasal gliomas, and cephalocele may occur [10]. Cephaloceles are persistent dural
diverticula containing intracranial contents that herniated through the cranial defect [9,
10]. Meningocele contains meninges and cerebrospinal fluid, while protrusion of
meninges and brain tissue through skull defect is called meningoencephalocele [9].
Heterotopical glial tissue is the presence of brain tissue in the scalp without an open
cranial defect [9, 11]. Imaging studies for cranial defects include US, MRI, and CT, and
if occult central nervous system (CNS) connection is identified, neurosurgeon consult
should be obtained [2, 9].

11.2.2 Nasal Defects

Tumors in this region are uncommon, and they are not allowed to be excised or biopted
before the diagnostic is performed [9]. Ultrasound can determine characteristic of the
lesion (solid or cystic), and MRI is the diagnostic tool of choice to determine
connection of skin or subcutaneous lesion with CNS [9, 10, 12–14]. Treatment of
lesions in this region requires multidisciplinary approach [9–15].

11.2.2.1 Nasal Dermoid Cyst and Sinus

Nasal dermoid cyst and sinus (NDCS) is a rare developmental anomaly with an
incidence of 1:20,000 to 1:40,000 births that can be present as cyst, sinus, or fistula and
may have intracranial extension in 4–45% [10–14]. Pathogenesis involves the
incomplete obliteration of neuroectoderm in the developing frontonasal region [2, 12]. It
is mostly present as nasal dorsum mass (79%) and may be associated with sinus
opening [2, 12–14]. Intermitent discharge of the sebaceous material and recurrent
infection are common, with hair protruding through a punctum as a pathognomonic sign
[12]. Progressive enlargement of a nasal dermoid can cause soft tissue and skeletal
deformity, local infection, meningitis, and brain abscess [12]. Different imaging
modalities, such as CT and MRI are used to determine extent of the lesion and intranasal
or intracranial extension [13, 14]. There is a classification of nasal dermoids into
superficial, intraosseous, intracranial extradural, and intracranial intradural [14]. On
histologic exam, nasal dermoid is characterized as well-defined cyst lined by squamous
epithelium of ectodermal origin with adnexal structures of mesodermal origin [12, 13].
Complete excision is the treatment of choice (Figs. 11.1a–f and 11.2a–d) [12, 13]. If
there is no sinus opening in the skin, open rhinoplasty approach is recommended, and if
there is sinus tract opening, it must be excised (with small excision) along with sinus
tract which is excised through open rhinoplasty approach or endoscopic approach [2,
13]. In case of sinus extension deep to the nasal bones, nasal osteotomy is recommended
in vertical manner so the tract can be followed proximally [2, 12, 13]. When
intracranial extension is present, first, the extracranial approach is performed, and stalk
of visible tract is sent to a frozen biopsy, and if it is positive, the intracranial approach
is performed via bicoronal incision (“keystone” approach) or via endoscopic endonasal
skull base surgery (EESS) [12, 13].
Fig. 11.1 Nasal dermoid cyst and sinus with intracranial propagation: (a) inflammation and edema of the right orbital
region; (b) magnetic resonance imaging revealing intracranial propagation; (c) intraoperative finding (bone defect); (d
and e) secondary surgery performed since there was rest of the extracranial part of sinus; (f) the result 3 months
postoperatively

Fig. 11.2 Nasal dermoid sinus excision: (a) sinus opening at nasal dorsum; (b) intraoperative view; (c) complete
excision of the sinus; (d) postoperative view

11.2.2.2 Nasal Glioma (Nasal Heterotopic Glial Tissue)

Nasal glioma is a rare congenital malformation that presents mature brain tissue isolated
from the cranial cavity or spinal canal [9, 11, 15]. It is derived from either entrapped
neuroectodermal tissue or a nasal encephalocele which later becomes disconnected [11,
15]. Imaging studies such as CT, MRI, and nasal endoscopy are used to differentiate
nasal glioma from encephalocele (biopsy or aspiration is contraindicated) [11]. The
treatment of choice is surgical excision (for intranasal glioma, transnasal endoscopic
approach is recommended) (Fig. 11.3a, b) [11, 15].

Fig. 11.3 Nasal ectopic glial tissue excision: (a) lesion of the left nasal region; (b) postoperative result

11.2.2.3 Dermal Sinus Tracts

Dermal sinus tract (“ectodermal inclusion cysts”) is result of incomplete sequestration
of the neuroectoderm and somatic ectoderm, and it can occur from the occiput to sacrum
[2, 16, 17]. They are most commonly presented with hypertrichosis, skin tags, and
abnormal pigmentation [1]. MRI is the main diagnostic tool, and treatment is surgical
(Fig. 11.4a–c) [1, 2, 16, 17].
Fig. 11.4 Dermal sinus tract excision: (a) clinical appearance; (b) excision of the sinus tract; (c) postoperative view

11.2.3 Sinus Preauricularis and Accessory Tragus

These are common anomalies presented as an epithelial-lined sinus “pit,” skin tag, or a
skin tag containing cartilage (“accessory tragus”) [18]. Accompanied anomalies of
urinary tract are present in 8.6% of the patients with these anomalies, and US of urinary
tract should be performed [9]. The treatment is surgical because of aesthetic reasons in
case of accessory tragus and to prevent infections and further complication for sinus
(Fig. 11.5a–d) [9, 18].
Fig. 11.5 Excision of preauricular sinus: (a) inflammation of preauricular region; (b) complete excision; (c)
postoperative result; (d) accessory tragus

11.2.4 Neck Anomalies

Pediatric neck masses present diagnostic and therapeutic challenge, requiring extensive
knowledge of the anatomy, the embryology, and the pathology [10, 19–30]. In children,
most lesions are benign, either congenital or inflammatory [20].

11.2.4.1 Thyroglossal Duct Cyst

The thyroid gland develops during third gestational week (GW) in form of ventral
diverticulum from the endoderm of the first and second branchial pouches [2, 26]. As
the median thyroid anlage descends caudally, a tract forms the thyroglossal duct [23, 24,
26]. Thyroglossal duct typically involutes between 7 and 10 GW, and thyroglossal duct
cyst (TGDC) remnant is formed if the tract persists or fails to obliterate, along any
portion of the thyroid descent (base of the tongue and pyramidal lobe of the thyroid [2,
23, 24, 26].
TGDC anomalies are the most common congenital anomaly of the neck and the
second most common neck mass found in children (50% is manifested until 10 years of
life) [19, 23, 24, 26]. TGDC remnants occur in approximately 7% of population and
both sexes are equally affected [24, 26]. TGDC is most commonly located ahead of
thyrohyoid membrane and in suprahyoid region, but it can also be located anywhere
from the base of the tongue to thyroid gland [2, 26]. The cyst is always primary
anatomical presentation and the sinus is secondary [2].
Clinically, in most cases, there is asymptomatic, cystic neck mass, and near one
third of patient is presented with infection, and one forth is presented with draining
sinus (incorrectly used term fistula) [2, 23, 24, 26]. Lateralization of TGDC can occur
in 10–16% of cases [23, 24]. Histologically, TGDCs are lined by respiratory and/or
squamous epithelium [20, 24]. It is important to rule out the ectopic thyroid gland
(sometimes the TGDC can occur within the thyroid gland) [24]. Malignant alteration is
present in 1% of cases (papillary thyroid carcinoma, squamous cell carcinoma) [19, 23,
24].
Imaging includes US, CT, or MRI, and sometimes thyroid scintigraphy and screening
of thyroid-stimulated hormone TSH are indicated [23, 26, 30]. Differential diagnosis
includes dermoid cyst, epidermoid cyst, lymph node, lipoma, and thyroid adenoma [23,
24, 26, 30].
Treatment is surgical excision by the Sistrunk procedure [2, 23, 24, 26]. After
identification of cyst, the channel is followed up to the hyoid bone, excision of the hyoid
bone is performed, and the tract is ligated near its proximal origin (Fig. 11.6a, b) [2, 23,
30]. Complications of the procedure include bleeding, hematoma, and infection [23,
24]. Recurrence is reported in range of 2.6–5% (and up to 47%), and “extended”
Sistrunk procedure should be performed in that case [2, 19, 22, 24, 26, 30]. There are
also reports of successful treatment of TGDC with 99% sterile ethanol [21].
Fig. 11.6 Thyroglosal duct cyst excision: (a) preoperative view; (b) complete excision by Sistrunk procedure

11.2.4.2 Branchial Arch Anomalies

Branchial arch anomalies (BAA) present 20–30% of the excised cervical masses in
children, and they are the most common lateral neck masses [19, 26]. Branchial
anomalies (BAs) can present as cyst (80%), sinus, or fistula, and they result from the
maldevelopment of the branchial apparatus which consists of grooves-ectoderm,
arches-mesoderm, and pouches-endoderm during the embryonic period [2, 26, 27, 30].
BAs are typically present in infancy and childhood, but it can be diagnosed for the first
time at any age with males and females equally affected [19, 27, 28, 30].
Diagnosis is made in more than half of cases by anamnestic data and physical
examination, and sometimes additional radiographic studies are needed [9, 27]. On
histology, first arch BAs are lined with squamous epithelium, and the second and third
arch anomalies are composed of squamous and respiratory epithelium [19, 27, 29, 30].
US, CT, MRI, fistulography, and direct laryngoscopy are the diagnostic tools used for
BAAs, and definitive treatment is surgical [19, 27–30].
Second BAAs present 70–95% of all BAs [2, 9, 19, 26, 28, 30]. The second BA
forms the hyoid bone and the adjacent structures, and the second pouch-endodermal
layer forms the epithelium of palate tonsil and the supratonsillar fossae [19, 26]. The
majority of SBAAs are cyst (divided into four types by Bailey) [30]. Treatment of the
second BAA cysts is surgical (Fig. 11.7a–c) [27, 28]. Second BAA can form the tract
from supratonsillar fossa to the skin on anterior border of the sternocleidomastoid
muscle (SCM) [19, 26]. The fistulae of second BA are typically presented at infancy or
childhood, and cysts are presented in older age, mostly as nontender, soft mass, deep to
anterior border of SCM, manifested after respiratory infection [2, 9, 26]. Excision of
fistula can be performed through single or through stepladder incision (Fig. 11.8a–c)
[19, 26–28].

Fig. 11.7 Second branchial arch cyst excision: (a) preoperative view of the right lateral neck region; (b) excision of
the cyst; (c) acceptable scar 2 months postoperatively
Fig. 11.8 Second branchial arch fistula excision: (a) preoperative view (fistula opening at left side of the neck region);
(b) complete excision of the fistula through stepladder excision; (c) postoperative view

First BAAs present 1–8% of branchial cleft anomalies; they are located in proximal
part of the neck in parotid region or submandibulary, always superior to the hyoid bone,
mostly presented as cysts [2, 18, 19, 26]. Belanky and Medin divide first BAAs into
type I, with the tract passing laterally or superiorly to the facial nerve without opening
into the external auditory canal and type II with the tract passing superiorly or
superomedially to the facial nerve (inconsistent relationship) with opening into external
auditory canal, and there is also classification of first BAAs proposed by Work and
Arnot [19, 26, 28, 30]. Preauricular cyst and sinus can be misdiagnosed for first BAAs
[18]. Treatment of these anomalies is surgical and challenging because of their
proximity to the facial nerve (facial nerve palsy is described in 10–40% of cases) [1,
19, 26–28].
Third and fourth BAAs are rarest among brancial arch anomalies with cranial origin
at pyriform sinus and with close proximity with the thyroid gland at inferior part [2, 19,
26, 29, 30]. Third and fourth branchial arch anomalies are presented at any age, usually
as lateral neck mass or suppurative thyroiditis, and in most cases on the left side [19,
28–30]. They are differentiating by their relationship with the superior laryngeal nerve
and common carotid artery, by their opening at the pyriform sinus, and by the presence
of thymic and thyroid tissue [28, 29]. Diagnostic tools include US, barium swallow, CT,
and MRI [2, 27, 28, 30]. Complete excision is golden standard with chemocauterization
of pyriform fossa sinuses and with hemithyroidectomy in some cases [26, 28–30]. There
are also reports of successful treatment by sclerosation of BA cysts with OK-432 [29].

11.2.4.3 Cervical Chondrocutaneous Branchial Remnants

(CCBRs)
Cervical chondrocutaneous branchial remnants (CCBRs) are rare congenital, benign
neck anomalies arising from branchial arch, probably from remnants of the first or
second arch [31–33]. They are dysgenetic tumors (choristomas) originating from
dislocated tissue and always have central cartilages, elastic or hyaline (Fig. 11.9a, b)
[31, 32]. CCBRs are rare in contrast to the similar preauricular tags; they do not
communicate with other structures of the neck, and approximately one third have
associated anomalies [9, 31–33]. The treatment of choice is complete surgical excision
[9, 18, 32].

Fig. 11.9 Chondrocutaneous branchial remnant: (a) unilateral; (b) bilateral

11.3 Benign Skin Tumors

11.3.1 Benign Lesions of Epidermal Origin
Epidermal nevi are common hamartomatous lesions, presented as verrucous papulae
usually in a linear configuration, mostly on extremities with most lesions consisted of
skin-colored to brown papillomatous papules or plaques distributed along Blaschko’s
lines [2, 34]. The histopathology of epidermal nevus resembles hyperplasia of
keratinocytes and skin appendages [34]. Treatment options are topical treatment with
corticosteroids, cryotherapy, laser treatment, or surgical excision [2, 34].

11.3.2 Benign Lesions of Dermal Origin

11.3.2.1 Hair Follicles
Epithelioma calcificans is initially described by Malhebrae and Chanentais in 1880,
and it is known as pilomatricoma from 1977 [1, 35]. It is derived from the hair follicle
matrix cells, and in 40% it occurs under 10 years of life [1, 5, 34, 35]. It is slow-
growing, irregularly contoured, mobile, but rock hard mass found in the deep dermis or
subcutaneous layer of the skin [2, 3, 34, 35]. A bluish or reddish hue is a key to
diagnosis [35]. It is mostly located in head and neck region, followed by the upper
extremities and trunk, and there is female predominance [34, 35]. US is the only
diagnostic tool needed in most cases [1, 34]. It is often misdiagnosed for epidermoid or
dermoid cyst, calcified lymph node, and sebaceous cyst [34, 35]. Surgical excision is
treatment of choice with low recurrence rate (1–6%) (Fig. 11.10a, b) [1, 34, 35].

Fig. 11.10 Pilomatricoma excision: (a) preoperative view of the left preauricular region; (b) complete excision of
pilomatricoma

11.3.2.2 Sebaceal Gland Tumors

Nevus sebaceous of Jadassohn is well-defined hairless tan or yellow-orange plaque
present on the scalp, head, or neck that occurs sporadically, with similar incidence in
males and females [35, 36]. During adolescence the lesion becomes more prominent
due to hyperplasia of sebaceous and apocrine glands [36]. Secondary tumors arise
within the nevus sebaceous (fortunately malignances are very rare) [2, 34, 36]. The
diagnosis of nevus sebaceous is made based on clinical appearance and by
histopathological exam (after excision), and differential diagnosis includes epidermal
nevus, juvenile xanthogranuloma, and congenital aplasia cutis [35, 36]. Treatment of
nevus sebaceous is surgical, especially if there are any irregular areas in lesion (Fig.
11.11a, b) [2, 35, 36].

Fig. 11.11 Nevus sebaceous of the scalp: (a) preoperative view; (b) complete excision

11.3.2.3 Cysts
Epidermal inclusion cyst is solitary, noncompressible, slow-growing, papular, or
nodular lesion, often seen in pediatric population [3, 34]. They are lined by well-
differentiated stratified squamous epithelium and enlarged by cellular proliferation and
desquamation of keratinized debris into the center of the cyst [2, 10]. A central punctum
is a clue to the diagnosis [34]. Rupture of the cyst wall may cause inflammation [2, 3,
34]. Complete excision is treatment of choice [2, 10, 34].
Dermoid cysts arise as nontender, yellowish, subcutaneous nodule that develops
along the embryonic lines of closure [2, 37]. According to the classification of New and
Erich, dermoid cysts are classified into three pathologic types: acquired implantation
(resemble epidermal cysts), congenital teratoma (embryonic germinal epithelium of all
three types), and congenital inclusions (dermoid cysts of the head and neck) which are
further divided into four anatomical groups, periorbital, dorsum of the nose, submental
region, and suprasternal, thyroidal, and occipital region [2, 10, 37]. Dermoid cysts
occur in around 60% of cases on the lateral third of the eyebrow [2, 10, 34, 37].
Because of local growth, there can be pressure erosion of the bone [34]. Dermoid cysts
are derived from ectoderm and mesoderm; they are lined by keratinizing squamous
epithelium but include dermal structures such as hair follicles, sweat glands, apocrine
glands, and sebaceous glands [10, 37]. The lipid material in cysts is derived from
sebaceous secretions [2, 10]. Diagnosis is usually made by US, and CT and MRI are
used to rule out both intracranial and intraorbital extension [34, 37]. Treatment of
choice is early surgical excision, it is site dependent, and it can be open or endoscopic
(Fig. 11.12a, b) [10, 34, 37].

Fig. 11.12 Dermoid cyst of the anterior neck region: (a) preoperative view; (b) complete excision

11.3.3 Benign Soft Tissue Tumors

Benign soft tissue tumors are classified according to the tissue involved, and there is an
updated classification of soft tissue tumors of the World Health Organization (WHO)
presented in 2013 [38].

11.3.3.1 Benign Tumors of Fibrous Origin

Pediatric fibroblastic and myofibroblastic tumors are relatively common group of soft
tissue proliferation [8, 39, 40]. There are several types of fibromatoses in pediatric
population presenting as benign, intermediate-locally aggressive, and intermediate-
rarely metastasizing [8, 39, 40]. Infantile myofibroma (solitary, multicentric, or
generalized) is the most common fibrous tumor of infancy and lipofibroma, and desmoid
fibromatoses are not so common [7–9, 34, 39]. Solitary lesions are erythematous to
purple, mobile, rubbery, or firm subcutaneous tumors [9]. Surgical excision is the
treatment option if there is complication such as obstruction of vital structures [7–9, 34,
39]. Dermatofibroma (benign fibrous histiocytoma) is a common cutaneous nodule,
characterized by proliferation of fibroblast, histiocytes, and vascular endothelial cells,
and frequently develops on the lower extremities, and excision is rarely indicated [2,
41]. Juvenile xanthogranuloma mostly occurs in pediatric population as infantile and
adolescent/adult type [41].

11.3.3.2 Benign Tumors of Fat Origin

Lipoma is relatively uncommon benign tumor in pediatric population, consisting of
mature adipose cells [3, 8, 34]. They most commonly arise at puberty as well as
circumscribed, solitary, or multiple lesions, localized within the subcutaneous or deeper
tissues, preferentially on the neck, shoulders, back, and abdomen [2, 8, 34]. Treatment is
surgical excision with the pseudocapsule (Fig. 11.13a–d) [2, 8].

Fig. 11.13 Lipoma excision: (a) preoperative view; (b) magnetic resonance imaging of the dorsum; (c) intraoperative
view; (d) postoperative result

11.3.3.3 Benign Tumors of Muscle Origin

Leiomyoma (cutaneous or subcutaneous) is a tumor that is derived from the smooth
muscles in the skin, including the arrector muscle of the hair and vascular smooth
muscle, and rhabdomyoma is benign tumor of the striated muscle that occurs in children
as fetal rhabdomyomas [1, 2, 8].

11.3.3.4 Benign Tumors of Nerve Sheath

They rise in anatomical nerve route and usually lead to nerve function disorder [2, 3, 8,
42]. The two most common peripheral nerve sheath tumors are neurofibroma (NF) and
schwannoma [7, 42]. Neurofibromas arise from the connective tissue of peripheral
nerve sheaths (composed of Schwann cells, fibroblasts, mast cells, and perineural
cells), and they can appear as localized, diffuse, and plexiform neurofibromas (16–40%
of patients with NF) (Fig. 11.14a, b) [1–3, 7, 8]. Plexiform neurofibromas are
associated with neurofibromatosis I [7, 42]. Shwannomas and granular cell tumor are
rarely seen in children [1, 7, 8].

Fig. 11.14 Plexiform neurofibroma: (a) tumor of the left dorsal region; (b) complete excision

11.3.3.5 Benign Tumor of Synovial Tissue

Ganglion is cystic swelling containing gel-like material, overlying a joint capsule,
ligament, tendon sheaths, or a bone [43–46]. Pathogenesis is unclear but is most
probably because of mucin production as a reaction to stress [46]. It is a common lesion
in pediatric population with unknown incidence [43–46]. Unlike in adults a majority of
ganglion cyst in children is found in volar aspect [44, 45]. US is the first imaging
modality and an MRI can also be used [45]. Open surgical excision offers significantly
lower chance of recurrence compared with aspiration in the treatment of wrist ganglions
(Fig. 11.15a, b) [43, 44].
Fig. 11.15 Ganglion of the right radiocarpal region excision: (a) preoperative view; (b) intraoperative view

11.4 Infective Lesions

11.4.1 Hidradenitis Suppurativa
Hidradenitis suppurativa is a chronic, recurrent, inflammatory disease that affects
apocrine gland-bearing sites [47, 48]. This is a disease of follicular unit involving
aberrant cutaneous cellular immunity likely in response commensal bacteria; deep
dermal, painful abscesses ultimately heal leaving fibrosis and induration of the skin [18,
47, 48]. HS can have a significant influence on a qualiy of life [47–49]. It is very rare
among the children under 10 years of age, (less than 2% of all cases are pediatric) with
2:1 female to male ratio [47, 49]. Diagnosis of HS is made by clinical appearance with
the groin and axilla as most affected regions [48, 49]. There is classification by Hurley
into three stages according to extent of the disease in the tissue [49]. The treatment
depends on the severity of the disease, and it includes conservative treatment
(chlorhexidine wash, azelaic acid, clindamycin 1% lotion, or solution), antibiotics
(clindamycin, doxycycline, rifampicin), anti-inflammatory agents, CO2 laser, and
surgery (Fig. 11.16a–c) [47–49].
Fig. 11.16 Severe hidradenitis of the pubic and anogenital region: (a) preoperative view; (b) complete excision of the
lesion; (c) defect reconstruction with split-thickness skin graft placement

11.4.2 Lymphadenopathy
Cervical lymphadenopathy is common among pediatric population [50–52]. Bacterial
lymphadenitis is usually acute and unilateral; Staphylococcus aureus and Streptococcus
agalactiae and pyogenes are the most common causative organisms, and submandibular
nodes are affected in 50% of patients [1, 50, 51]. Diagnostic includes blood tests,
imaging (US, CT, MRI), and fine needle aspiration biopsy (FNAB) or open biopsy
(which is golden standard; largest node should be excised) [50, 51]. Near one third of
acutely infected lymph nodes suppurate requiring incision and drainage [1]. Most
common cervical lymphadenopathy is caused by bacterial or viral infection, but also
atypical mycobacterial infection, infectious mononucleosis, and cytomegalovirus have
to be considered in differential diagnosis [50]. Differential diagnosis includes wide
spectrum of benign and malignant causes (Fig. 11.17a, b) [1, 50, 51].
Fig. 11.17 Neck lymphadenopathy: (a) preoperative view; (b) excision of the submandibular lymph node

Cat scratch disease is the most common cause of chronic regional lymphadenopathy
affecting the head and neck region in children caused by Bartonella henselae [1, 3,
50–53]. Lymphadenopathy is mostly localized on the upper extremity followed by the
neck and jaw [53]. Antibiotic therapy and surgical excision are treatment options in
symptomatic patients [1, 53].

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© Springer International Publishing AG 2017
Aleksandar M. Vlahovic and Emir Q. Haxhija, Pediatric and Adolescent Plastic Surgery for the Clinician,
DOI 10.1007/978-3-319-56004-5_12

12. Malignant Skin and Soft Tissue Tumors

Aleksandar M. Vlahovic1 and Emir Q. Haxhija2
(1) Department of Plastic Surgery and Burns, Institute for Mother and Child Health
Care of Republic Serbia, University of Belgrade, New Belgrade, Serbia
(2) Department of Pediatric and Adolescent Surgery, Medical University Graz, Graz,
Austria

Keywords Malignant soft tissue tumors – Children – Treatment

12.1 Introduction
Malignant skin tumors in pediatric population are extremely rare (1–2% of all skin
tumors excised); however the possibility of a malignant soft tissue lesion must be
systematically considered [1–7]. Worrisome mass have following risk factors: rapid
growth, ulceration, fixation or deep localization on fascia, rough texture, hard structure,
size larger than 3 (5) cm, onset in neonate, and high vascularity [1, 5–7].
The most common skin malignancies that affect children are rhabdomyosarcoma
(RMS), fibrosarcoma (FS), synovial sarcoma (SS), neuroblastoma (NB), malignant
peripheral nerve sheath tumor, and cutaneous lymphomas [1, 2, 6, 7, 8]. Pediatric
plastic surgeon can be involved in managing of cervical teratoma, which is mostly
histologically benign lesion, but represents significant challenge for treatment [9–11].
Semi-malignant pediatric tumors include fibromatoses, dermatofibrosarcoma
protuberans (DFSP), and vascular tumors (hemangioendothelioma and tufted angioma)
[1, 12]. Recently there is significant progress made in treatment of malignant lesions in
children, with increasing number of survivors [13].

12.2 Rhabdomyosarcoma
Rhabdomyosarcoma (RMS) is a rapidly growing malignant soft tissue tumor of
mesenchymal origin (cells committed to becoming skeletal muscle) that rarely involves
the skin [2–5, 8, 14–21]. Cutaneous appearance is secondary to extension from the soft
tissue into the dermis [5]. It is the most common of the pediatric soft tissue sarcoma, and
it accounts for 4–8% of all malignancies in children less than 15 years of age (the peak
incidence of RMS is between 1–4 and 2–6 years) [2, 3, 5, 7, 8, 14, 17, 19, 21].
Congenital RMS is extremely rare, and only 0.4% of patients are under 1 month of life
[17, 19]. The lesion is in near 40% of cases located in head and neck region, followed
by genitourinary tract, and extremities [2, 3, 17, 21]. The clinical appearance varies
from small cutaneous nodule to an extensive fast-growing tumor (it is often overlooked
or misdiagnosed for infection, lymphatic malformation, or hemangioma) [4, 5, 16–18].
There are four groups of RMS according to the Intergroup Rhabdomyosarcoma Study
based on whether tumor is localized or metastatic and whether or not it is resectable
[2].
Fine needle biopsy, core needle biopsy, and incisional or excisional biopsy are used
as diagnostic tools for rhabdomyosarcoma, followed by light microscopic examination,
immunohistochemistry, electron microscopy, and cytogenetic analysis [5, 17–19].
Magnetic resonance imaging (MRI) and computerized tomography (CT) are used for
tumor and lymph node evaluation [3, 8, 20, 21]. There are three histologic types of
RMS: embryonal, alveolar, and undifferentiated (pleomorphic) [2, 3, 8, 17]. Embryonal
tumors are found in 80–85% of cases and they mostly occur at birth, and alveolar occurs
at adolescent period (worse prognosis) (Fig. 12.1a, b) [2, 3, 15]. RMS can be present
in syndromes such as Li-Fraumeni and Beckwith-Wiedemann syndrome [3, 18].
Metastasis of RMS is primarily by hematogenous route [17, 19].
Fig. 12.1 Rhabdomyosarcoma of the head: (a) intraoperative view; (b) tumor biopsy

Treatment of RMS includes chemotherapy, radiation therapy, and surgery [2, 3, 5,

8]. Radiotherapy and chemotherapy are treatment of choice for local control of the
primary lesion, regression of tumor size, and for unresectable tumors [2, 3, 8, 17].
Primary excision should be attempted only if complete excision can be accomplished
without significant consequences, and secondary excision may be considered after
chemotherapy [2–4]. Poor prognosis occurs if the diagnosis of RMS is established
during infancy or adolescence, if there is alveolar histology, and if there is metastatic
disease at the time of presentation [3–5, 8].

12.3 Infantile Fibrosarcoma

Infantile fibrosarcoma (IF) is classified as nonrhabdomyosarcoma malignant
mesenchymal tumor (the second most common childhood sarcoma involving the skin),
with the incidence of 5 per million infants less than 1 year of age [5, 22, 23].
IF affects children primarily before the age of 2, representing 5–10% of all
sarcomas in children younger than 1 year of age, and congenital fibrosarcoma has
clinical signs before 3 months of age [22, 23]. In most cases the tumor represents as
bulging, locally destructive, rapidly growth mass mostly on the lower extremities and
trunk with a very low rate of metastases [5, 20, 22–24]. Skin involvement is usually
secondary [5].
Differential diagnosis includes RMS, vascular tumors and malformations, and
infections [5, 23]. Surgical removal has remained a primary component of the treatment
with adjuvant chemotherapy (preoperatively or postoperatively) (Fig. 12.2a–h) [22,
23]. There is small difference in disease-free survival between the patients who had
positive tumor margins and those who did not, meaning that “heroic” surgery should be
avoided [22]. The overall 10-year surviving rate is 90% [23].
Fig. 12.2 Infantile fibrosarcoma of the right femoral region: (a) preoperative view; (b) magnetic resonance imaging
finding; (c) tumor biopsy; (d) magnetic resonance imaging finding prior definitive surgery; (e and f) excision of the
tumor; (g) 2-year postoperative finding; (h) magnetic resonance imaging finding revealing no presence of tumor

12.4 Cervical Teratoma

Teratomas are rare and unusual tumors derived from all three germ cell layers
(ectoderm, endoderm, and mesoderm) [9–11, 20, 25]. Congenital teratoma is usually
found in sacrococcygeal region, and head and neck region is affected in 5% of cases
[9–11, 20]. The incidence is reported to be between 1 in 20,000 and 40,000 live births
[9, 10, 20]. The tumors may be diagnosed in the antenatal, perinatal, and postnatal
period [11, 25]. Antenatal diagnosis is crucial because it optimizes the preparedness of
the clinical personnel in attendance at the delivery of these children to execute whatever
intervention is required to secure the airway [9–11, 25]. There is maternal
polyhydramnios in near one third of prenatally diagnosed cervical teratoma on routine
ultrasonography (US) [10, 11, 25]. Although usually histologically benign, the mortality
rate for untreated tumors is 80–100% [10, 11]. The major risk posed by large cervical
teratomas is that of neonatal airway obstruction [9, 11, 25].
Multidisciplinary approach is very important for these children [9–11]. Both ex
utero intrapartum treatment (EXIT) and operation on placental support (OOPS)
procedures have been performed for cervical teratoma to secure the airway [9, 11, 25].
Preoperatively CT scanning or MRI should be performed in stabile patients [11].
Definitive treatment of these tumors is surgical excision, and it should be performed
promptly because of respiratory and other complications (Fig. 12.3a–d) [9–11, 25].
They are pseudo-encapsulated and should be treated easily, and excision of the thyroid
cartilage, pharyngeal wall, and thyroid parenchyma is sometimes required [9–11].
Operative mortality rate nowadays is low, with injury of regional nerves reported
postoperatively [11].
Fig. 12.3 Cervical teratoma: (a) preoperative view; (b) computerized tomography finding; (c) intraoperative view; (d)
postoperative scar at lower anterior neck region

12.5 Cutaneous Neuroblastoma

Neuroblastoma (NB) is one of the most common solid malignant tumors in children
(50% of malignancies in infants), derived from the primitive neural crest cells of the
sympathetic nervous system, with the incidence of 10 per million births [4, 5, 25–27].
NB mostly occurs in the abdomen (80%), and around 5% are primarily located in
cervical region [12, 20, 21, 26]. Primary cervical neuroblastoma can be presented with
Horner syndrome, cranial nerve palsy IX–XII, heterochromia iridis, and compression of
vital cervical organs; diagnosis is made by US, CT, and MRI, and it has favorable
prognosis [20]. Primary cutaneous neuroblastoma is extremely rare in children (most
commonly there are cutaneous metastases from primary adrenal tumor) presenting as
bluish, hard, and painless nodules or papule [1, 5, 12]. After compression there is
central pale region “icy blanch” secondary to local catecholamine release [5, 27].
Clinically cervical NB presents as a palpable indolent mass in the lateral neck with
compression on vital neck structures [27]. Diagnostic evaluation includes genetic
analysis, immunophenotyping, serum and urine catecholamines and lactate
dehydrogenase (LDH) levels, and metaiodobenzylguanidine (MIBG) scan (to rule out
metastasis) [4, 5, 26, 27]. N-myc amplification with 10 or more copies per haploid
genome is considered as highly unfavorable factor [27]. Radiological evaluation
including US, MRI, and CT is necessary to evaluate the exact extension of the tumor [5,
21, 26, 27]. Treatment of neuroblastoma includes combination of surgery, chemotherapy,
and radiation (Fig. 12.4a, b) [4, 5]. Surgery is the treatment of choice for localized
neuroblastoma without N-myc amplification [4, 26, 27].

Fig. 12.4 Neuroblastoma metastases, cervical localization: (a) preoperative radiological finding; (b) tumor excision

12.6 Dermatofibrosarcoma Protuberans (DFSP)

Dermatofibrosarcoma protuberans (DFSP) (also called giant cell fibroblastoma and
low-grade sarcoma) is a rare soft tissue tumor with low- to intermediate-grade
malignancy, characterized by high rates of local recurrence yet low risk of metastasis
[5, 12, 15, 28]. It is in most cases located on the trunk and the proximal portion of the
limbs [4, 5, 12]. Pediatric DFSP is reported between 6 and 20% in literature [4, 12].
DFSP in children demonstrated atypical variations and in that way mimics keloids,
vascular anomalies, or fibrosarcoma [4, 12, 15]. The initial presentation of the DFSP is
of an asymptomatic, nodular plaque, ranging from 1 to 5 cm, which is fixed to the skin
[5, 12]. The main characteristic of DFSP is its capacity to invade surrounding tissue to
considerable distance from the central focus of the tumor [12].
The treatment of choice for nonmetastatic DFSP is complete surgical resection
(classically or by Mohs micrographic surgery) with margin at least 2–5 cm (Fig. 12.5a–
f) [4, 5, 12, 15]. After complete excision, the defect can be reconstructed by direct
sutures, skin grafts, and local or distant flaps [5, 12]. Dermatofibrosarcoma protuberans
is immunoreactive for CD34 (differentiating from dermatofibroma) and S-100 protein-
negative (differentiating from neurofibromas) [4, 5]. The recurrence rate ranges from 0
to 30% and grows with narrower excision border [4, 12]. Radiotherapy should be used
in cases of microscopic residual disease or as an adjuvant therapy [12].
Fig. 12.5 Dermatofibrosarcoma protuberans: (a) tumor of left dorsal region; (b) tumor excision; (c) second excision
(tumor presence on the resection margins after first procedure); (d) wide excision at second surgical procedure; (e)
postoperative view; (f) 2-year follow up

12.7 Synovial Sarcoma

Synovial soft tissue sarcomas arise from the synovioblastic differentiation of pluripotent
mesenchymal stem cells, and they represent 8–10% of all malignant somatic soft tissue
neoplasms [3, 8, 29–32]. The incidence per year is 0.7 per million [28]. They are in
most cases presented as solitary, well-circumscribed lesions in the upper or lower
extremities [3, 8, 27]. They never arise within the joint (since the cells of origin are not
synovial) [8, 28].
The most common symptom is a painless mass that has existed for several weeks to
years, and there is calcification in up to 30% of cases [3]. The treatment of choice is
surgical excision with tumor-free margins of 1–3 cm with adjuvant chemotherapy and
radiotherapy depending on initial tumor size, respectability, and primary site (Fig.
12.6a–d) [3, 8, 30, 32]. The overall survival rate with surgery and radiation therapy is
shown to be 76% at 5 years and 57% at 10 years [3, 30].

Fig. 12.6 Synovial sarcoma of the right brachial region excision: (a) magnetic resonance imaging finding; (b)
preoperative view (the child was previously treated in other hospitals); (c and d) excision of tumor

12.8 Lymphoma
Lymphoma is commonly presented as cervical mass [21]. On clinical examination
grounds, nodes larger than 2 cm, hard nodes, and supraclavicular nodes along with
weight loss, fever, and organomegaly are highly suspected for malignancy [30].
Lymphomas are the most common pediatric cancer, divided into Hodgkin lymphoma
(HL) and non-Hodgkin lymphoma (NHL) and further subdivided according to the cell
line involved [2, 21, 23, 33–35]. The incidence of Hodgkin lymphoma (HL) is 50 per
million; it has a peak of distribution in adolescence and adulthood, and only 5% of
tumors occur in children younger than age 10 [2, 35]. There is 2:1 male/female ratio,
and near 80% of these patients are present with asymptomatic cervical adenopathy [2].
Staging workup should include blood tests (complete blood count with differential
erythrocyte sedimentation rate), renal and hepatic functional tests, alkaline phosphatase,
and CT [2, 21, 33]. The hallmark of this disease is the Reed/Sternberg cell [2, 33]. The
biopsy is indicated in all patients with Hodgkin disease, treatment is multimodal
including chemotherapy and radiation therapy, and cure rate for lymphoma is
approaching 90% [2, 33, 35]. NHL is more common in white persons, only 25% of
cases occur in children younger than age 10, and there is male predominance (2–3:1) [2,
21]. Tumor grows rapidly, early diagnosis is critical, and NHLs are histologically
generally recognized as low, intermediate, and high grade (most tumors in children) [2].
Diagnosis is made by incisional biopsy with a cervical lymph node excision as the
preferred method for diagnosis in cases of cervical adenopathy (Fig. 12.7a, b) [2, 21].
Mainstay of treatment is chemotherapy [2, 33].

Fig. 12.7 Hodgkin lymphoma: (a) preoperative view; (b) biopsy of the supraclavicular lymph nodes

12.9 Congenital Leukemia Cutis

This is a extremely rare entity, and it encompasses multiple brown-red to violaceous
papules and nodules [4, 36]. A skin biopsy or serum complete blood count is necessary
to confirm the diagnosis (Fig. 12.8a, b) [4]. Referral should be made to a
hematologist/oncologist [4, 36].
Fig. 12.8 Congenital leukemia cutis: (a) tumor of the right foot; (b) postoperative view

12.10 Peripheral Primitive Neuroectodermal Tumor (pPNET)

Primitive neuroectodermal tumor (PNET) is a rare tumor of pluripotent neural crest
cells that includes tumors arising from the central nervous system (medulloblastoma)
and from the autonomic system (neuroblastoma) [2, 37–39]. Peripheral primitive
neuroectodermal tumor (pPNET) is a category of neuroectodermal tumors that involves
peripheral tissues and nerves, probably originating from undifferentiated mesenchyme,
and it represents 1% of all sarcomas [2, 38]. pPNET is considered to be a well-
differentiated tumor, while Ewing sarcoma and Askin tumor are poorly differentiated
variants [37, 38]. Treatment of pPNET includes multiagent chemotherapy, wide
excision, and radiotherapy (Fig. 12.9a–c) [2, 37–39].
Fig. 12.9 pPNET: (a) tumor of the right femoral region tumor; (b) preoperative magnetic resonance imaging; (c)
complete excision of the tumor

12.11 Langerhans Cell Histiocytosis (LCH)

This entity is characterized by abnormal proliferation of clonal CD1a-positive immature
dendritic cells—Langerhans cell histiocytosis (LCH) cells, normally found in the
epidermis, bone marrow, and lymph nodes [3, 5, 40]. It is one entity with different
phases along a continuum, with eosinophilic granuloma representing a solitary type of
LCH, Hand-Schüller-Christian disease is considered the chronic disseminated type, and
Letterer-Siwe disease represents the acute disseminated type [2, 5, 40]. Nowadays LCH
is classified as single-system (SS) or multisystem (MS) and unifocal or multifocal
disease [40]. Cutaneous manifestations are seen in a half of patients and often are the
first sign of disease (papules, erythematous rash, red nodules or papules) [5, 40]. The
most common extracutaneous site of infiltration is the bone (calvarium) [2, 5, 40].
Diagnostic procedures involve biopsy-histology, radiography, CT, MRI, and
immunohistochemical staining (accumulating histiocytes are positive for CD1a or
langerin) [2, 40]. The prognosis is better in children with SS disease or without risk
organ involvement compare to MS disease and risk organ involvement [36]. Therapy
includes enucleation, curettage, and resection for solitary self-limited lesions and
chemotherapy for systemic involvement (Fig. 12.10a–c) [2, 40].
Fig. 12.10 Histiocytosis: (a) Intraosseous localization of the lesion;(b) magnetic resonance imaging; (c) biopsy
performed

12.12 Hemangioendothelioma and Tufted Angioma

Kaposiform hemangioendothelioma (KHE) and tufted angioma (TA) are intermediate
locally aggressive vascular tumors of infancy and early childhood, thought to be related
entities on the same spectrum of disease [8, 20, 41–43]. They often present as solitary,
blue-red soft tissue tumors, with poorly defined margins [42, 43]. KHE and TA are
associated with Kasabach-Merritt phenomenon (KMP), a consumptive coagulopathy
characterized by severe thrombocytopenia and hypofibrinogenemia [41–43]. There is
high hemorrhage risk for these children with mortality rate from hemorrhagic
complications as high as 30% [5, 16]. Diagnosis is made by clinical and hematologic
findings (confirmed by MRI), and biopsy is usually not indicated (Fig. 12.11a, b) [41,
42]. If they are localized, complete surgical excision KHE and TA is the treatment of
choice [20, 42, 43]. Since many tumors are unresectable due to location, size, or tissue
infiltration, a variety of pharmacologic treatments have been reported in the literature
including corticosteroids, interferon-α, vincristine, actinomycin-D, cyclophosphamide,
propranolol, and sirolimus with various successful rates [20, 41, 42].

Fig. 12.11 KHE of the left deltoid and brachial region: (a) clinical finding; (b) tumor biopsy

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© Springer International Publishing AG 2017
Aleksandar M. Vlahovic and Emir Q. Haxhija, Pediatric and Adolescent Plastic Surgery for the Clinician,
DOI 10.1007/978-3-319-56004-5_13

13. Hemangiomas
Aleksandar M. Vlahovic1 and Emir Q. Haxhija2
(1) Department of Plastic Surgery and Burns, Institute for Mother and Child Health
Care of Republic Serbia, University of Belgrade, New Belgrade, Serbia
(2) Department of Pediatric and Adolescent Surgery, Medical University Graz, Graz,
Austria

Keywords Hemangiomas – Children – Treatment

13.1 Introduction
A biological classification of vascular anomalies introduced in 1982 clearly separates
two major categories of vascular anomalies, tumors and malformations [1–3]. Vascular
tumors (mostly hemangiomas) are characterized by endothelial cell proliferation, and
vascular malformations are inborn defects in vascular morphogenesis and rarely
involute and grow in proportion to the child [1–4]. Infantile hemangiomas (IHs) have
unique characteristics, consisting of a proliferating, involuting, and involuted phase
[1–8]. The term hemangioma is often wrongly used to describe all types of vascular
anomalies [4].

13.2 Epidemiology
Infantile hemangiomas (IHs) are the most common benign, soft tissue tumors of infancy
which affect between 4 and 5% of Caucasian infants [1, 3, 5]. The incidence is 22–30%
in preterm infants who weigh less than 1000 g [2–4]. The risk factors for IHs are also
transcervical chorionic villus sampling, older maternal age, and multiple gestation
pregnancy [1]. There is a familial history in about 12% of cases [1, 5]. IHs have female
predomination 3–4:1 and mostly involve the head and neck (up to 60%), and they are
solitary in 80% [1–3, 5].
13.3 Pathogenesis
The pathogenesis of IHs is still unknown [1, 5]. Angiogenic and vasculogenic factors
are known as intrinsic (within the IH) and extrinsic factors (tissue hypoxia and
developmental field disturbances) [1, 3, 5]. There is a theory that IHs develop from the
clonal expansion of circulating endothelial progenitor cells (EPCs), resulting in de novo
formation of new blood vessels (vasculogenesis) [1, 2].
Hemangioma-derived endothelial progenitor cells (HemEPCs) share similarities
with placental endothelium (glucose transporter protein GLUT1, Lewis Y antigen,
merosin, type III iodothyronine deiodinase); there is increased incidence of IH in
association with chorionic villus sampling, placenta previa, and preeclampsia; and it
has been postulated that the precursor cell for IH might have embolized from the
placenta [1–3, 5, 6]. Hypoxia-induced factors (vascular endothelial growth factor,
VEGF-A; matrix metalloproteinases, MMP-9) produced by endothelial cells may
stimulate circulating (HemEPCs) recruitment to the growing tumor [1, 2, 5]. The
mechanism for IH involution is unknown; apoptosis begins before 1 year of age and
peaks at 24 months [2, 5].
There are several immunohistochemical markers for IHs (CD 31, CD 34, factor
VIII-related antigen), but the most useful is GLUT1, which is strongly expressed only in
IHs in all stages of evolution [1–6]. The histologic features of IHs change during rapid
growth and involution [1, 3].

13.4 Clinical Features

IHs usually appear within the first 2–4 weeks of life [1–3, 5, 9]. Defined (mark-out)
anatomical area of hemangioma is noted at birth as telangiectatic or macular red stain,
barely visible pale area, or an ecchymotic spot [2, 3, 7]. By 5 months of age, nearly
80% of final size of IH is achieved [1, 5, 7]. IHs are classified on the basis of their soft
tissue depth into superficial (red surface, without subcutaneous component), deep
(under the skin surface, they appear later and grow longer compared to superficial IHs),
and mixed (growth pattern that is intermediate between superficial and deep) (Fig.
13.1a–c) [1, 3–5, 7]. There is a specific subtype of superficial IH named abortive IHs
with arrested growth phase [1].
Fig. 13.1 Infantile hemangioma: (a) superficial; (b) deep; (c) mixed

Clinical appearance of IHs allows differentiation between focal (most common),

multifocal, indeterminate, and segmental, depending on their morphology, extent, or
distribution (Fig. 13.2a–c) [1, 3, 8, 9]. Focal IH arises from a single focal point, while
segmental hemangioma tends to involve a larger area of the skin [1, 7–9]. Lesions
between these two groups are considered indeterminate, and focal lesions occurring in
more than one anatomical site are multifocal [1, 9]. Segmental IHs have more
tendencies to be accompanied with other anomalies and have higher risk for
complications [1, 3, 5, 8–10]. If there are more than five cutaneous hemangiomas, the
child is at risk for harboring visceral, particularly intrahepatic, hemangiomas [1,
10–13].
Fig. 13.2 Infantile hemangioma: (a) focal; (b) segmental; (c) multifocal; (d) intermediary

IHs have a life cycle going through proliferation (during 5–9 months of life), plateau
phase, and involution (starting from 12 months of life lasting up until 5–10 years of age)
(Fig. 13.3a–c) [1–5, 7, 9]. Proliferation phase is characterized by growth of
hemangioma, its elevation with surrounding pallor, and dilatation of veins [1–3, 8]. If
the tumor proliferates in the lower dermis and subcutis, the lesion may not be visible
until 3–4 months of age, and the overlying skin may be bluish [1, 5].
Fig. 13.3 Infantile hemangioma: (a) proliferative phase; (b) involutive phase

During involuting phase, there is fading of crimson color, central graying of the
surface, and during involuted phase, there are residual skin changes including
telangiectasias, crepelike laxity, scarring, or a fibrofatty residuum in a significant
number of children [1, 2, 4, 5].

13.5 Complications
Approximately 24% of patients with IH experience some complication [1, 5].
Ulceration occurs in 5–21% of all cutaneous hemangiomas, leading to pain, bleeding,
and infection (Fig. 13.4a–f) [1, 2, 5, 6]. Superficial and segmental hemangiomas are at
higher risk, as well as hemangioma with periorbital, neck, perianal/perineal, and
intertriginous localization [1, 2, 5, 9]. Treatment of ulceration includes daily application
of nonadherent dressings, hydrocolloid dressing, topical antimicrobials, becaplermin
gel, pulsed-dye laser (PDL), excision, and propranolol [1, 2, 5].
Fig. 13.4 Complication of hemangioma: (a) ulceration; (b) visual obstruction; (c) ulcerated hemangioma of urogenital
region; (d) feeding problems; (e and f) airway obstruction

Bleeding from IH is rare, it stops spontaneously or with minimal pressure, and

rarely it is necessary to place a mattress suture to control a local bleeding site [1, 2, 5].
Feeding impairment occurs in infants with IHs involving perioral or airway region [1].
Airway IHs can occur in a presence or absence of cutaneous hemangioma, and it can
cause respiratory failure [1, 2, 5]. In case of beard distribution of hemangioma or
bilateral involvement of lower facial segment, there is higher association of airway
involvement [1, 5, 14]. Treatment of airway hemangioma is multidisciplinary,
propranolol is first-line therapy, and tracheostomy is needed in emergent or resistant
cases [1, 5, 14].
Child with periorbital hemangioma is in higher risk for amblyopia, and in that case
evaluation of an ophthalmologist is needed [1, 2, 5]. Propranolol and surgery (in acute
cases) are treatment options for periocular IHs [1, 5].
Lip hemangioma often causes distortion and ulceration of lips during proliferative
phase [1, 15]. Reconstruction of the lip is indicated (usually when the growth of
hemangioma ceased) [1, 5, 15, 16].
Nasal tip hemangiomas are known to cause both cosmetic and functional problem
(by displacing lower lateral nasal cartilage and distorting nasal tip) [1, 2, 16, 17]. Only
the hemangiomas that do not respond to propranolol, or if there is excess of the skin left,
should be treated surgically [1, 16–18]. Congestive heart failure and hypothyroidism are
connected as complication with large IHs and with diffuse or multifocal hepatic IHs [1,
5, 12].

13.6 Congenital Hemangiomas

Congenital hemangiomas (CHs) are less common and they are fully present at birth (Fig.
13.5a, b) [1–3]. There are three types of congenital hemangioma: noninvoluting
congenital hemangioma (NICH), rapidly involuting congenital hemangioma (RICH), and
partially involuting CH [2]. They have the same sex ratio, and they are negative for
GLUT1 immunostaining [1–4]. NICH grows proportionately to the child and remains
unchanged [1–3]. RICH goes through a rapid regression phase and may be completely
gone by the time the child is 12–18 months old [1, 3].
Fig. 13.5 Congenital hemangioma: (a) noninvoluting congenital hemangioma; (b) rapid involuting congenital
hemangioma

13.7 Syndromes
A small subgroup of children with IHs exhibits additional associated structural
anomalies like in the syndrome called PHACES (posterior fossa malformations,
hemangioma, arterial anomalies, cardiovascular anomalies, eye abnormalities, and
sternal clefting) [1–3, 5, 6, 8, 10, 13]. LUMBAR syndrome includes lower body IH,
urogenital anomalies and ulceration, myelopathy, bony deformities, anorectal
malformations, and arterial anomalies and renal anomalies (Fig. 13.6a–d) [3, 5, 6].

Fig. 13.6 PHACES syndrome: (a) beginning of the treatment with corticosteroids; (b) the result 4–5 years after
treatment; (c) magnetic resonance imaging revealing intracranial anomaly; (d) LUMBAR syndrome

13.8 Patient Evaluation

The diagnosis of IH is possible in most cases by correlating history and physical
examination [1–5]. Histologic diagnosis is gold standard, and immunohistochemically
positive staining of endothelial cells in IH tumor specimens with GLUT1 presented in
all stages differentiates IH from other vascular tumors and malformations [1–5, 18]. In
case of deep subcutaneous, intramuscular or visceral lesions, or when there are
associated anomalies, radiological evaluation is indicated including ultrasonography
(US) (gray scale or color Doppler), computerized tomography (CT), and magnetic
resonance imaging (MRI) with contrast, which is the gold standard diagnostic procedure
for hemangioma [1, 2, 4].

13.9 Treatment Option

There are no standardized methods to measure IH growth and therapeutic response [5].
Treatment options for IHs are conservative (propranolol, corticosteroids, interferons,
and chemotherapy), laser, and surgical (excision with a linear closure or circular
excision and “purse-string” closure) [1, 2, 4, 18–32]. The use of propranolol for the
treatment of IHs was serendipitously discovered in 2008, and it completely changed the
treatment approach for IHs [1, 4, 18, 20, 23]. In 90%, IHs are small, harmless tumors
that can be followed monthly through proliferative phase and on 3 months when the
involution occurs [1–4]. More frequent visits are necessary whenever a hemangioma is
large, ulcerated, multiple, or located in an anatomically critical area [1, 2].

13.9.1 Propranolol
Propranolol has become the first-line medical therapy for complicated IHs [1, 4–6, 17,
18, 20–23, 26, 27]. Optimal dosing, treatment timing and duration, and risk of
complications have not yet been established in randomized trials [1, 18, 28]. The mode
of action of propranolol in the treatment of IH is unknown (vasoconstriction, inhibition
of angiogenesis, regulation of the renin-angiotensin system, and induction of apoptosis
are possible mechanisms) (Fig. 13.7a, b) [1, 5, 18, 20–22, 27].
Fig. 13.7 Treatment of hemangioma with propranolol: (a) beginning of the treatment; (b) the result after 9 months

Positive responses of IHs (complete or nearly complete resolution) to propranolol

are reported from 60%, 86%, and up to 98.4%, and it has most efficacies in
proliferative phase [1, 20, 22–24, 26]. Lightening of the color and softening of the tumor
are usually noted within hours to days of the initial dose of propranolol [1, 20]. A
complete history (airway disease, lung or heart problems, and hypoglycemia), physical
examination, and electrocardiography are performed, with cardiology consultation [1, 4,
20–24]. Younger infants, low heart rate, positive family history of congenital heart
disease, and abnormal findings on ECG warrant echocardiogram before starting the
medication [1, 4, 5, 21].
Relative contraindications to the use of propranolol for IHs include sinus
bradycardia, hypotension, heart block greater than the first degree, heart failure,
bronchial asthma, and known hypersensitivity to the drug [1, 4, 5, 9, 20–23].
Propranolol should be used with great precautions for patients with PHACE syndrome
because theoretically there is increased risk of acute ischemic stroke [1, 2, 18, 28]. The
most commonly reported adverse effects of propranolol are hypoglycemia, hypotension,
bradycardia, sleep disturbance, and bronchospasm [1, 2, 5, 18, 22, 26]. Initial dose of
propranolol is 0.5 mg/kg per day in three divided doses, and the target dose is 2–3
mg/kg per day [1, 5, 18, 21, 33]. Hemangeol (oral suspension of propranolol) is dosed
maximally at 3.4 mg/kg per day [1]. Dosing frequency is two or three times daily (in
order to reduce the risk of hypoglycemia [1, 4, 18, 20, 21, 24]. Heart rate and blood
pressure measurements should be taken 1 and 2 h after the first dose and 1 and 2 h after
each dosage increase [1, 18, 21]. In children with any acute illness, the dose of
propranolol should be decreased, or the therapy should be ceased [1]. Treatment
duration varies from 3 to 12 months and discontinues taperly over a period of 1–3
weeks [1, 4, 21, 22]. In case of rebound growth of IH, reinitiating of therapy may be
necessary [1, 24]. Topical timolol maleate (TTM) (0.5% gel-forming solution) can be
recommended as an initial, and often sole, treatment modality (twice-daily topical, for
more than 3 months) for many relatively superficial uncomplicated IHs (Fig. 13.8a, b)
[1, 18, 25].

Fig. 13.8 Treatment of hemangioma with topical propranolol: (a) beginning of the treatment; (b) local finding 3 years
after the treatment

13.9.2 Corticosteroids
The precise mechanism of action of glucocorticoids in the treatment of IHs is unknown
[1, 4, 5]. Corticosteroids can be applied as systemic, topical, or intralesional therapy
[1, 2, 4–6, 18]. Oral prednisolone is still a primary treatment option for hemangioma in
some centers [2]. Systemic corticosteroids are given in dose of 2–3 mg/kg/day for 4–6
weeks; thereafter the dosage is tapered slowly over several months and discontinued by
6–12 months of age [1, 2, 5, 18]. Average response rate of 84%, with an average
prednisone equivalent dose of 2.9 mg/kg/day, and higher doses are associated with
increased response rates but greater rates of adverse effects [1, 2, 4, 18]. Adverse
effects of systemic corticosteroids are frequent, and they include cushingoid facies,
temporary growth deceleration, gastric upset, behavioral changes, osteopenia,
hypertension, immunosuppression, and ocular and cutaneous adverse effects [1, 2, 5, 18,
22]. Live vaccines are withheld during therapy [1, 18]. Well-localized, small cutaneous
hemangioma can be treated with intralesional corticosteroid [1, 2]. Triamcinolone (25
mg/mL) (sole or as a mixture with betamethasone) is injected, and doses should not
exceed 3–5 mg/kg per procedure [1, 4, 5]. Multiple (three to five) injections are
needed, given at 6- to 8-week intervals [1, 5, 18]. Local complication can occur (fat
and/or dermal atrophy and hypopigmentation), and special precaution has to be taken in
treatment of hemangioma in periorbital region [2, 4, 5]. Topical corticosteroids are
rarely used, mostly for thin, superficial hemangiomas, and their advantage is lack of
systemic effects [2, 5, 18].

13.9.3 Interferons
Interferon (IFN)-2a and IFN-2b inhibit endothelial cell migration and proliferation [1,
5, 18, 33]. The empiric dose is 2–3 mU/m2; it is injected subcutaneously, daily, for 2–12
months [5, 18]. Costs and adverse effects (spastic diplegia as the most worrisome) have
made the therapy with interferons not attractive to use [1, 4–6, 18, 22, 32].

13.9.4 Chemotherapy
Chemotherapy is nowadays rarely used since propranolol has been introduced for
treatment of IHs. Vincristine has been successfully used for treatment of complicated
IHs, kaposiform hemangioendothelioma (KHE), and tufted angioma (TA) [1, 4–6, 18].
Cyclophosphamide can also be successful, but it is rarely given for a benign vascular
tumor because of its toxicity (Fig. 13.9a–d) [32].
Fig. 13.9 Diffuse neonatal hemangiomatosis, treatment with cyclophosphamide: (a) before the treatment initiation;
(b) computerized tomography revealed multiple hepatic hemangiomas; (c) after the treatment; (d) magnetic resonance
imaging revealed no presence of hepatic hemangioma

13.9.5 Surgical Management

The role of surgery in treatment of hemangioma faded since the propranolol has been
introduced, but is still important [1, 5, 17, 28, 29]. Early surgical excision during
proliferative phase is rarely indicated [1, 2, 5]. Indications for surgical treatment are
function-threatening lesions, failure or contraindication to pharmacotherapy, bleeding
and ulceration unresponsive to therapy, well-localized tumor in anatomical area, and if
the resection will be needed in the future [1, 2, 4, 5, 17, 28]. It is best to perform
surgery before 4 years of age (before the child is aware of lesion) [3, 17, 28].
Since growing hemangioma acts like tissue expander, circular excision and “purse-
string closure” has been proved as a good operative technique for well-selected cases
(Fig. 13.10a–c) [2, 29, 30]. Transverse lenticular excision is applicable in certain
locations, such as eyelids, lip, and neck, or as the final stage after circular excision
(Fig. 13.11a–c) [1, 17].
Fig. 13.10 Excision of hemangioma by circular excision and purse string suture: (a) large hemangioma of the left
buccal region with ulceration; (b) circular excision of hemangioma; (c) the result after reconstruction of the defect
with purse string suture
Fig. 13.11 Excision of large congenital hemangioma of the right posterior femoral region by ellipsoid excision and
linear suture: (a) preoperative view; (b) intraoperative view; (c) postoperative result

13.9.6 Laser Therapy

The pulsed-dye laser (PDL) (wavelength 595 nm) is most commonly used for treatment
of IHs, and neodymium-doped yttrium aluminum garnet (Nd:YAG) laser and CO2 lasers
are also used for treatment of IHs [1, 5, 30, 31]. Indications for laser treatment are
superficial facial IHs, ulceration refractory to medical management, and residual
cutaneous lesions [1, 2, 23, 29, 31]. Disadvantages of laser treatment are limited depth
of penetration into the dermis (0.75–1.2 mm) and that children usually require general
anesthesia [1, 2, 5, 31]. Adverse effects of laser treatment are ulceration, scarring, and
hypopigmentation [1, 2, 5, 31].

13.10 Pyogenic Granuloma

Pyogenic granuloma (PG) is a benign, solitary, acquired vascular tumor of the skin and
mucous membrane that grows rapidly, frequently confused with hemangioma [2, 26, 33,
34]. It is common in children, with male to female ratio of 2:1 [2, 3]. PG is mostly
distributed on the head or neck and trunk, and it is commonly complicated by bleeding
(64%) and ulceration (36%) [2, 26, 33, 34]. Full-thickness excision is most effective
treatment [2]. Curettage, shave excision and cauterization, carbon dioxide (CO2) laser
vaporization, and topical timolol are also used for treatment of PG (Fig. 13.12a, b) [2,
26, 33, 34].

Fig. 13.12 Pyogenic granuloma: (a) preoperative view; (b) postoperative result

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[CrossRef][PubMed][PubMedCentral]

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propranolol for the treatment of infantile hemangioma: a systematic review. Pediatrics. 2016;138(4):pii:e20160353.

23. Elluru RG, Friess MR, Richter GT, Grimmer JF, Darrow DH, Shin JJ, Perkins JA. Multicenter evaluation of the
effectiveness of systemic propranolol in the treatment of airway hemangiomas. Otolaryngol Head Neck Surg.
2015;153(3):452–60.
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after propranolol therapy. Pediatrics. 2016;137(4). Doi:10.1542/peds.2015-1754

25. Püttgen K, Lucky A, Adams D, Pope E, McCuaig C. et al. Hemangioma Investigator Group. Topical timolol
maleate treatment of infantile hemangiomas. Pediatrics. 2016;138(3):pii:e20160355

26. Buckmiller LM, Munson PD, Dyamenahalli U, Dai Y, Richter GT. Propranolol for infantile hemangiomas: early
experience at a tertiary vascular anomalies center. Laryngoscope. 2010;120(4):676–81.
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 facial hemangiomas. Int. J. Ped. Otolar. 2007;71:1311–5.
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[CrossRef][PubMed]

34. Pagliai KA, Cohen BA. Pyogenic granuloma in children. Pediatric Dermatol. 2004;21:10–3.
[CrossRef]
© Springer International Publishing AG 2017
Aleksandar M. Vlahovic and Emir Q. Haxhija, Pediatric and Adolescent Plastic Surgery for the Clinician,
DOI 10.1007/978-3-319-56004-5_14

14. Lymphatic Malformation

Aleksandar M. Vlahovic1 and Emir Q. Haxhija2
(1) Department of Plastic Surgery and Burns, Institute for Mother and Child Health
Care of Republic Serbia, University of Belgrade, New Belgrade, Serbia
(2) Department of Pediatric and Adolescent Surgery, Medical University Graz, Graz,
Austria

Keywords Lymphatic malformation – Children – Treatment

14.1 Introduction
Vascular anomalies are divided based on endothelial characteristics in vascular tumors
(mostly hemangiomas) and vascular malformation [1–3]. On the base of type of the
vessel included in vascular malformation, they are divided mainly into simple
(capillary malformation (CM), lymphatic malformation (LM), venous malformation
(VM), and arterial malformation (AM)), and combined vascular malformation—two or
more vascular malformations in one lesion, malformation of major named vessels, and
malformation associated with other anomalies [1–3]. Vascular anomalies are also
divided into slow-flow (CM, LM, VM) and fast-flow (AM) vascular malformation [2,
3].

14.2 Clinical Features

The lymphatic system develops during the sixth week of embryonic life [3, 4]. By the
first theory, the lymphatic system is derived from the primordial endothelial buds
sprouting from the developing venous system, the second theory is the theory of
“centripetal” development, and the third one is the combination of these two theories
[3–7].
The exact etiology of LM is unknown [4]. There are several theories for etiology of
LM: failing of aberrant primordial endothelial buds to reestablish communication with
venous system from which it arose, part of lymphatic channels becomes “pinched off”
from the main lymphatic system, and abnormal budding of the lymphatic system with a
loss of connection to the central lymph channels [3, 4]. No genetic basis has been
determined for LMs [3]. LMs (traditionally called lymphangiomas) are benign vascular
lesion presented as localized areas of abnormal development of the lymphatic system
[3, 6, 7]. If LM is relatively large, it can be diagnosed by ultrasound (US) prenatally by
the second trimester [3, 4]. LMs are in approximately 50% of cases presented at birth
and near 90% within the first 2 years of life [3, 4, 7–10]. The reported incidence of
LMs varies from 0.14 to 5% of all benign soft tissue tumors, with both genders equally
affected [4, 8, 10]. In up to 75% of the cases, they are localized in the head and neck
region, followed by the axilla, chest, buttock, perineum, and
retroperitoneum/mediastinum [3, 4, 7, 8, 10–12]. Depending on cyst diameter (there is
no clear definition of the size for the lesion), LMs are divided into macrocystic,
microcystic, and combined [2–5, 8, 12, 13].
Disease location, size, and depth have a major influence on prognosis [3–5, 8–13].
LM lesions are visible, nontender, soft, and compressible swellings [3, 10, 11].
Cutaneous or mucous lesions usually present as liquid-filled vesicles (blood or purulent
fluid) (Fig. 14.1) [3, 8]. Deep-seated LMs can be divided into diffuse edema
(microcystic) and localized multilocular cyst (macrocystic) [8].

Fig. 14.1 Superficial lymphatic malformation of the abdominal wall

 LMs in certain anatomical regions present diagnostic and treatment challenge in the
orbital region, tongue, floor of the mouth, neck, and mediastinum [4, 8]. Because of the
common embryological origin, lymphatic and venous system lymphatic-venous
malformation (LVM) also can occur [3, 14, 15].

14.3 Complication (Symptoms) of LMs

The two most common complications associated with LM are bleeding and infection,
and they result in rapid enlargement of the LM [3, 8, 10]. Intralesional bleeding occurs
in up to 35% of lesions causing ecchymotic discoloration, pain, or swelling and
compression of adjacent organs [3, 4]. Depending on the anatomic position of the LM,
this compression can lead to acute visual disturbances, pain, headaches, respiratory
distress, and dysphagia [4, 14, 15]. Infection occurs as a complication in nearly 70% of
lesions [3]. Cutaneous vesicles can be associated with lymph and blood leakage [3, 4,
8].
Giant cervicofacial LM is a special group of LMs that are usually placed in
multiple tissue planes and involve vital structures (Fig. 14.2) [3, 4, 15]. Oral lesions
may lead to macroglossia, speech problems, poor oral hygiene, caries, and
malocclusion [3, 16]. Infections and intralesional hemorrhage are the most common
complication of cervicofacial LMs [14, 15]. There is a five-staging system proposed by
Seeres et al. based on the location and extent of the lesions in the neck (unilateral
suprahyoid, unilateral infrahyoid, unilateral supra- and infrahyoid, bilateral suprahyoid,
bilateral infrahyoid, and bilateral supra- and infrahyoid) [8, 16].
Fig. 14.2 Large lymphatic malformation of the head and neck

There are no accepted treatment protocols for cervicofacial LMs, the management is
extremely difficult, and it requires multidisciplinary approach [3, 4]. The airway is the
primary concern in an infant with LM [15]. Nearly 50% of patients require tracheotomy,
and it should be performed without hesitation as an ex utero intrapartum treatment
(EXIT) procedure or in the first days of life [3, 4, 15]. Treatment options for LMs in
cervicofacial region are resection, sclerotherapy, laser coagulation, and radiofrequency
ablation [3, 8, 10, 11, 15, 16].
The surgical treatment is best performed before development of facial image (3
years old), and it is usually connected with serious complications such as nerve
damage, bleeding, lymphatic drainage, and infection [8, 15, 16]. Surgical excision
should be avoided for the tongue and oral floor LMs, which are better to be treated with
sclerotherapy (with doxycycline, bleomycin, OK-432, and ethanol) [15]. Recently,
pharmacotherapy (sirolimus) is widely used as a first line of treatment for large
cervicofacial LMs [17–19].
LMs in the orbit are uncommon and they account for 3% of all orbital masses [14].
Periorbital LMs present with swelling, intraorbital hemorrhage, infection, ocular
proptosis, and blepharoptosis [3, 4]. Periorbital LM causes a permanent reduction in
vision (40%), and 7% of patients become blind in the affected eye [3]. Treatment
options are sclerosation with doxycycline, bleomycin, OK-432, and ethanol (for
extraorbital lesions only), surgical treatment, and pharmacologic therapy (sirolimus) for
large LMs [14–18].
Generalized LMs present with multifocal or osteolytic bony lesions, splenic
involvement, as well as pleural and/or pericardial effusions, and they are extremely
difficult for treatment [18–21]. Skeletal involvement of LM is also known as Gorham-
Stout syndrome, disappearing bone disease or phantom bone disease (Fig. 14.3a–c) [2,
3].
Fig. 14.3 Gorham syndrome: (a) deformation of the right shoulder area; (b) magnetic resonance imaging revealing
presence of lymphatic malformation

14.4 Patient Evaluation

Diagnosis of LM in most cases (90%) is made on the basis of history and clinical
manifestations [3, 4, 7, 8]. Small, superficial lesions do not require further evaluation
[3]. Radiological techniques are used to determine anatomic extent of the disease and
the rheologic nature [4, 7, 9]. Ultrasonography and color Doppler study differentiate
slow-flow from fast-flow anomalies and a discrete tumoral mass from the anomalous
channels of a vascular malformation [7–9]. Ultrasonography is less valuable for deep-
seated lesions [4]. Magnetic resonance imaging (MRI) is the best radiological technique
for characterizing LM [4, 7, 8, 11, 15]. MRI with contrast can help to distinguish LM
from venous malformation (VM) or lymphaticovenous malformation (LVM) (Fig. 14.4a,
b) [3, 4, 9, 15].

Fig. 14.4 Lymphaticovenous malformation of the right orbit: (a) clinical view; (b) magnetic resonance imaging of the
head region revealing large intraorbital lymphaticovenous malformation

Histologically, LMs are composed of vascular spaces filled with eosinophilic,

collections of lymphocytes, and protein-rich fluid with lymphatic channels lined by a
single layer of flattened endothelium [3, 4, 8, 11, 22].

14.5 Treatment Option

LM is a benign lesion and small or asymptomatic lesions may be observed [3, 21].
Spontaneous regression of LMs is rarely seen [8]. Treatment of LMs is reserved in case
of symptomatic lesions that cause pain and significant deformity or if the LM is a threat
to a vital structures [3, 7, 8]. An infected LM often requires intravenous antimicrobial
therapy [3]. Patients and families are counseled that LM can expand following any
intervention, and thus additional treatments are often required in the future [3].
Treatment option for LM is usually multimodal, and treatment algorithms are not yet
created [3, 6, 8, 10–12, 16–19, 22–29, 31]. Treatment of LMs includes observation,
pharmacotherapy, excision, and sclerotherapy [3–31]. Disease location has a major
influence on prognosis, and outcomes are not so favorable for children with orbital,
parotid, laryngopharyngeal, and oral disease [10, 14, 15].

14.5.1 Sclerotherapy
Injection sclerotherapy induces endothelial inflammation in a vascular structure with the
goal of causing thrombosis, occlusion, fibrosis, and contraction within a structure [4].
Sclerotherapy has emerged during the past several decades as first-line treatment option
for large or problematic macrocystic/combined LM [3, 8, 12]. Sclerotherapy is less
successful and less predictive for microcystic (deep-seated) LM, the response is not
instantaneous, and usually multiple procedures are needed [3, 4, 6, 13]. Different
sclerosing agents have been used for sclerotherapy of LMs such as ethanol, hypertonic
saline, alcoholic solution of zein (ASZ) (Ethibloc), and sodium tetradecyl sulfate (STS)
[6, 8, 12, 13, 22]. Ethanol has the highest complication rate (ulceration, nerve injury,
systemic toxicity) [3, 20]. The most utilized sclerosing agents for LMs are doxycycline,
bleomycin, and OK-432 [3, 4, 6–8, 10–12, 16, 22, 27, 29].

14.5.1.1 OK-432
OK-432 (Picibanil) is a sclerosant developed in Japan from a low virulence strain of
group A Streptococcus pyogenes [7, 10–12, 23, 24]. It was introduced by Ogita and
coworkers for treatment of LMs in children in 1987 [11, 23, 24]. The OK-432 solution
was prepared by dissolving 0.1 mg of OK-432 in 10 mL (0.01 mg/mL) of physiological
saline [23, 24]. The amount of OK-432 (0.1 mg/10 mL) is the same as aspirate fluid, not
more than 20 mL (Fig. 14.5a–d) [8]. The injection treatment is usually guided by US,
and lymphatic fluid aspiration is followed by injection of OK-432 substance into
malformation [25]. The side effects after instillation of OK-432 substance are fever and
local inflammatory reaction, pain, and swelling [8, 12, 24]. OK-432 has proved itself as
a safe and effective sclerosing agent; however, the use of OK-432 is limited because it
is not widely available [3, 12, 25]. Surgical treatment is usually recommended after
four unsatisfactory attempts of sclerotherapy with OK-432 [25].
Fig. 14.5 Treatment of macrocystic lymphatic malformation with OK 432: (a) Lymphatic malformation of the right
pectoral region; (b, c) aspiration of the cysts; (d) postoperative result

14.5.1.2 Bleomycin (Pingyangmycin)

Bleomycin is a widely available antibiotic derivate with cytostatic properties
(sclerosing effect was discovered later) [6–8, 12, 22]. Precise mechanism of bleomycin
sclerosing effect is unclear (most likely produces nonspecific inflammatory process that
results in fibrosis, endothelial damage, and subsequent obliteration of the channels) [6,
11, 22]. It is very effective for macrocystic and superficial microcystic LM [22]. Major
advantage of bleomycin is the relatively minimal inflammatory reaction and edema post
injection [6]. Pediatric patients should be hospitalized; allergic status, complete blood
count, and chest X-rays have to be taken, with preoperative imaging examinations
performed (US, MRI, or contrast-enhanced computerized tomography (CT)) [6, 22].
Bleomycin powder (15 U) should be diluted in concentration 1 U/mL, and maximal
single session dose should be 1 mg/kg, not exceeding 15 mg [21–23, 26]. Intervention is
performed under sedation or general anesthesia, with aspiration of cystic fluid under the
guidance of US, followed by bleomycin injection, and pressure dressing is applied to
the cyst usually for 5 min (Fig. 14.6a–c) [6, 8]. If there were no adverse reactions 24 h
after treatment with bleomycin (fever, cough, dyspnea, mental confusion), the patient
should be discharged [8]. If the child is older than 6 years, pulmonary function test
should be performed, and for the airway LM, corticosteroids should be administrated
[22]. One month after intervention, clinical and radiological reevaluation is performed,
and if any residual cystic mass is found by US, a second bleomycin injection is
performed [8, 22, 23]. The reported main side effects of the intralesional bleomycin
include fever, erythema, ulceration, hyperpigmentation, induration, alopecia, and
scarring [6, 8, 12, 22–24, 26]. The major concern about bleomycin treatment is the
association between bleomycin and pulmonary fibrosis [6–8, 12, 16, 22, 26]. The
pulmonary manifestation of bleomycin toxicity is dose dependent, and there have been
no documented cases of pulmonary fibrosis if the session doses do not exceed 15 mg [6,
16, 26].

Fig. 14.6 Treatment of axillary lymphatic malformation with bleomycin: (a) preoperative view; (b) aspiration of the
cysts and instillation of medicine; (c) the result 3 months after intervention

14.5.1.3 Doxycycline
Doxycycline is a member of the tetracycline family of antimicrobials frequently used for
sclerotherapy because it is effective, it can be used in large doses, and it has minor side
effects [3, 4, 5, 7, 13, 15, 17, 27–29]. Preoperative and follow-up (6–8 weeks post
intervention) imaging MRI or contrast-enhanced CT examinations should be performed
[4, 13, 27]. In case of large head and neck LMs, some authors performed posttreatment
MRI on day 3 to evaluate peri-airway inflammation and deviation/compression before
extubation [13, 27]. Microcystic LMs do not respond well to doxycycline [5].
There is no standardized protocol for treatment of LMs with doxycycline [13].
Procedures in children are usually performed under deep sedation or general anesthesia
as doxycycline injection is painful [4]. The US-guided percutaneous puncture is
performed, followed by aspiration of fluid from LM and instillation of previously
prepared doxycycline (100 mg of doxycycline + 5 mL of sterile water + 5 mL of water-
soluble contrast making a solution of 10 mg/mL) [4, 7, 27]. If the cyst is large (greater
than 30 mL of fluid), the procedure can be performed with short inpatient stay (usually 3
days) with fluid aspiration and doxycycline injection (retained for 4 h) repeated for
every day until the drainage is ceased [4, 13, 27, 28]. Postoperatively, depending on the
LM size, the blood level of doxycycline is measured; infants and neonates have glucose
monitoring every 2 h, with baseline hearing evaluation [13, 27].

14.5.2 Surgery
Clinicians divide LMs into focal (less infiltrative) and diffuse (mostly microcystic,
infiltrative) (focal lesions are easier to resect) [4]. Surgery used to be a traditional
primary treatment modality for LM; however, complete surgical excision is possible in
only 18–50% of patients, and there is significant morbidity with recurrence rate from 15
to 64% [3, 10, 13, 25]. Resection is usually reserved for small, well-localized LM, for
symptomatic microcystic LM (with bleeding or leaking cutaneous vesicles), and for
symptomatic macrocystic/combined LM that cannot be managed with sclerotherapy or
pharmacotherapy (Fig. 14.7a–c) [3, 11]. Diffuse and extensive lesions are almost
impossible to excise totally because they are poorly demarcated, with thin and friable
walls, involving vital structures [3, 8, 10, 11, 22]. For diffuse malformations, staged
resection of defined anatomical areas is recommended [3, 4, 10]. Resection of
cervicofacial LM is followed by injuries of the facial nerve and hypoglossal nerve,
seroma, tissue defects, heavy bleeding, and infection [8, 15].
Fig. 14.7 Surgical treatment of lymphatic malformation: (a) preoperative view; (b) intraoperative view; (c)
postoperative result

14.5.3 Laser Therapy

Lasers have been used to treat small, microcystic, and superficial lesions (carbon
dioxide, neodymium-doped yttrium aluminum garnet Nd:YAG, diode lasers); however,
they are not effective for deep-seated LM [8, 11].

14.5.4 Pharmacotherapy
There is evidence of successful treatment of generalized (complicated) vascular
malformation with sirolimus (Fig. 14.8a–g) [17–19, 21].
Fig. 14.8 Treatment of capillary-lymphatico-venous malformation with sirolimus: (a, d) clinical finding before the
sirolimus was introducted; (b, c) magnetic resonance imaging finding in the chest and right femoral region before the
treatment; (e) the child with significantly improved clinical finding; (f, g) magnetic resonance imaging finding in the
chest and right femoral region revealing excellent result

14.6 Lymphedema
Lymphedema is the chronic, progressive swelling of the tissue due to inadequate
lymphatic function [32, 33]. It occurs primarily and secondarily (in 99% of all cases)
from injury to lymph nodes and lymphatic vessels [32]. Primary lymphedemas are
considered a subtype of LM due to a primary dysgenesis of the lymphatic network, and
the extremities are most commonly affected, followed by genitalia (Fig. 14.9) [2, 5, 32].
Lymphoscintigraphy is the “gold standard” imaging study for evaluation of lymphatic
function [32].
Fig. 14.9 Lymphoedema of the right crural region and foot

Most patients are treated conservatively (prevention of infection, compression,

lowering of body weight, and physical activities) [32, 33]. Operative procedures may
include either attempt to increase drainage by creating new lymphatic connections
(physiologic procedures) or to reducethe size of the area by removing excess tissues
(excisional procedures) [5, 32].

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© Springer International Publishing AG 2017
Aleksandar M. Vlahovic and Emir Q. Haxhija, Pediatric and Adolescent Plastic Surgery for the Clinician,
DOI 10.1007/978-3-319-56004-5_15

15. Venous Malformation

Aleksandar M. Vlahovic1 and Emir Q. Haxhija2
(1) Department of Plastic Surgery and Burns, Institute for Mother and Child Health
Care of Republic Serbia, University of Belgrade, New Belgrade, Serbia
(2) Department of Pediatric and Adolescent Surgery, Medical University Graz, Graz,
Austria

Keywords Venous malformation – Children – Treatment

15.1 Introduction
Vascular anomalies are classified into vascular tumors (characterized by endothelial
proliferation) and vascular malformations (present the errors in morphogenesis) [1–3].
Vascular malformations are divided into simple malformation (capillary, lymphatic,
venous malformation, arteriovenous malformation, and arteriovenous fistula), combined
malformations (including at least two vascular malformations in one lesion),
malformation of major named vessels, and malformation associated with other
anomalies [1].
Venous malformations (VMs) are the most commonly treated slow-flow vascular
malformation with an incidence of approximately 1–2/10,000 births [4–11]. They grow
generally in proportion with the child, do not involute, and tend to enlarge
disproportionately over time [3, 4, 6, 7, 10–12]. The pathogenesis of VM is unclear
(TIE-2 endothelial receptor mutation is found in some of patient with sporadic VMs) [1,
2, 7, 9, 12].
VMs are classified as superficial or deep, focal, multifocal, or diffuse (Fig. 15.1a,
b) [1–5]. Superficial VMs are presented as a blue skin discoloration or as a soft,
nonpulsatile, compressible subcutaneous mass [2, 4, 6, 7]. Deep VMs infiltrate muscle,
bone, and visceral organs and may be unrecognized for until they become symptomatic
[1–4, 6, 7, 12, 13]. There is also a classification based on imaging and clinical features,
dividing VMs into spongiform (most common type), phlebectatic, aneurismatic, and
reticular type [6]. Dubois et al. divided VMs into four types based on the pattern of
venous drainage channels, response to treatment, and rates of complication: isolated
malformation without drainage, lesions draining into normal veins, lesions draining into
dysplastic veins, and lesions consisting primarily of venous ectasia [6, 7].
Histologically, VMs are composed of thin-walled, dilated spongelike channels with
normal endothelial lining and abnormal smooth muscle architecture [1–7, 13, 14].

Fig. 15.1 Diffuse venous malformation of the left lower extremity: (a) clinical view of the knee region; (b) magnetic
resonance imaging

The most common types of VMs are sporadic VM, glomuvenous malformation
(GVM), and blue rubber bleb nevus (BRBN) syndrome [1, 4–6]. Most VMs occur as
sporadic and solitary (approximately 94% of VM) (Fig. 15.2) [1, 2, 4, 7, 14]. Sporadic
VM is usually greater than 5 cm, single, and mostly located on the head and neck and
extremities (Fig. 15.3a, b) [2, 8, 13].
Fig. 15.2 Localized venous malformation of the right foot

Fig. 15.3 Venous malformation of the sublingual region: (a) submandibular leasion; (b) magnetic resonance imaging
of the lesion

VMs can be part of the syndromes such as capillary-lymphatic-venous malformation

(CLVM) or Klippel-Trenaunay syndrome, congenital lipomatous overgrowth, vascular
malformations, epidermal nevi and scoliosis or skeletal and spinal anomalies
(CLOVES), mucocutaneous familial venous malformation, Maffucci’s syndrome, and
Proteus syndrome [6, 7, 13].
 GVM is the most common familial form of venous anomaly, formerly known as
glomangioma caused by mutation of the glomulin gene on chromosome 1 [1, 2, 4–6, 14].
They account for about 5% of all VM [4, 5]. GVMs form nodular or plaque-like small
lesions (two thirds <5 cm), typically multiple, painful on palpation affecting the skin
(rarely mucosa), and involving extremities in most cases [1, 2, 4, 5, 7, 14].
Histologically, GVMs appear as dilated venous channels with abnormal smooth muscle-
like glomus cells [4, 14]. Blue rubber bleb nevus syndrome (BRBNS) or Bean
syndrome is a rare condition characterized by multiple, small (1–2 cm in size) VMs,
involving the skin (typically present on palmar and plantar surfaces), soft tissue, and
gastrointestinal (GI) tract (Fig. 15.4) [2, 4, 6, 12, 15]. Lesions within the GI tract may
be associated with significant bleeding [2, 4]. Treatment of patients with BRBNS is
challenging, involving resection of skin lesions, bowel resection, and ligation of
lesions, and recently, sirolimus is used for bleeding control [4, 6, 15].

Fig. 15.4 Blue rubber bleb nevus syndrome of the right gluteal region

Differential diagnosis includes verrucous hemangioma (VH) (provisionally

unclassified low-flow vascular malformation that is clinically similar to a
hyperkeratotic VM); deep (subcutaneous hemangioma), lymphatic malformation; and
dermal melanocytic nevi (Mongolian spot, nevi of Ota and Ito, and common blue nevus)
[1, 2, 5]. Jugular vein phlebectasia is a congenital fusiform dilatation of jugular vein
and is usually asymptomatic (Fig. 15.5a, b) [16].

Fig. 15.5 Phlebectasia: (a) normal clinical finding; (b) neck mass enlarged with Valsalva maneuver

15.2 Complications (Symptoms) of VM

The most common symptom of VM is pain due swelling, and other symptoms are usually
related to localization of VMs [2, 4, 7, 12]. In head and neck region, VM can cause
airway or orbital compromise due to mucosal bleeding [9, 12]. Extremity VM can cause
leg-length discrepancy, hypoplasia, pathologic fracture, and hemarthrosis, and muscle
VM may result in fibrosis and subsequent pain and disability [2, 12]. Gastrointestinal
VM can cause bleeding and chronic anemia [2, 4, 12].
VMs are associated with spontaneous thrombosis and thrombolysis, and they are
often proportional to the size of VM [4, 5, 12]. Patients with extensive VMs have been
found to have elevated D-dimer levels which are sensitive marker for thrombus
formation and fibrinolysis [4, 5, 7, 12, 13]. D-dimers are not elevated in GVM [6].
Stagnation within a large VM results in a localized intravascular coagulopathy (LIC),
painful phlebothromboses, and pulmonary embolism [2, 4, 12]. Localized intravascular
coagulopathy (LIC) is characterized by an increase in D-dimer level, normal platelet
count, and decreased fibrinogen level, and patients usually well tolerate this condition
LIC [4, 5]. Severe LIC can aggravate to disseminated intravascular coagulation (DIC)
which is a serious life-threatening condition [5].

15.3 Patient Evaluation

VMs are in most cases diagnosed by history and physical examination [2, 4, 5, 7, 11,
14]. VMs are easily compressible and usually swell in the dependent position [2, 6].
Patients with VMs should be screened for a basic coagulation profile including
complete blood count, prothrombin time (PT), partial thromboplastin time (PTT), D-
dimer, and fibrinogen [4, 5, 12].
Small, superficial VMs do not require further diagnostic workup [2, 9, 12]. Large
and deep VMs require imaging studying mainly performed with ultrasonography (US)
(for localized lesions), Doppler US, magnetic resonance imaging (MRI), and MR
venography [1, 2, 4, 9]. Conventional radiography and computerized tomography (CT)
are rarely used [2, 4, 5, 9]. CT scanning is more sensitive for the detection of
phleboliths and for the evaluation of osseous involvement [4, 7]. There is limitation to
evaluate extensive and deep lesions with ultrasound (US) [4]. On gray scale imaging,
VMs can appear as hypoechoic or heterogenous lesions, there is little to no flow on
Doppler interrogation, and presence of echogenic debris or shadowing phleboliths is
highly specific for the diagnosis of VM [4, 7]. Large or deeper VMs are evaluated by
MRI (extent and relationship to adjacent structures) [2, 4, 7, 9]. MR venography may be
performed for treatment planning to confirm the patency of a normal deep venous system
and to fully assess the extent of the VM and draining venous channels [7, 12].

15.4 Treatment Options

The treatment of a patient with VMs is individualized, usually within a multidisciplinary
team [4, 5, 9]. Intervention is reserved for symptomatic lesions that cause pain,
deformity, obstruction, intra-articular involvement, or gastrointestinal bleeding [2, 4,
13].
Treatment options for VMs include conservative treatment (elevation, local
compression, antibiotics, pain control), sclerotherapy, surgical resection, laser
photocoagulation, cryotherapy, and photodynamic therapy, and they all can be used as a
single procedure or as a combination [2, 4–9, 12, 14, 16–19]. The location, size, level
of infiltration, symptoms (pain), and psychosocial issue are most important parameters
that have to be included in the treatment plan for VMs [2, 4, 8, 9, 12]. Small, painless,
and very extensive VMs can be managed conservatively, and large extensive VMs are
still a therapeutic challenge [9, 12]. There is a lack of evidence for the effectiveness of
different treatments of VM [8, 9, 17].

15.4.1 Conservative Treatment

Medical management of VM is an essential component to treatment, including pain
control, prevention of thrombus formation, and progressive venous ectasia [4, 9]. The
acute pain secondary to phlebothrombosis can be treated with anti-inflammatory
medications and mild analgetics [2, 4, 5, 9, 12]. Low molecular weight heparin
(LMWH) is considered for patients with significant LIC who are at risk for DIC [4, 5,
15]. Custom-fitted compression garments provide significant symptomatic relief for
many patients with an extensive extremity VM, and they may prevent progressive
expansion of venous lesions [4–6, 12]. Compression garments should be initiated at an
early age, and they are also an important adjunct post therapy (they are contraindicated
for GVM) [2, 4, 5].

15.4.2 Sclerotherapy
Sclerotherapy is first-line treatment for VMs, and most common indications are pain,
disfigurement, and intra-articular involvement [2, 4, 5, 7, 12–16, 20]. Good to excellent
results are obtained in 65–90% of patients, depending of the type of VM and the
sclerosant [2, 4, 6, 15, 16]. Sclerosation can be used as a single therapy or in
combination with surgery and laser therapy [1, 3, 4, 11, 13]. There are different
sclerosants used for treatment of VM such as sodium tetradecyl sulfate (STS),
polidocanol (Lauromacrogol or Aethoxysklerol), absolute ethanol, ethylcellulose-
ethanol, doxycycline, OK-432, and bleomycin [2, 4–9, 12, 13, 17, 18, 19].
Most patients, especially children, are managed under general anesthesia using US,
fluoroscopic imaging, or CT [2, 7, 19]. Percutaneous puncture of VM and injection of
sclerosant are gold standard [6, 7]. The VM is cannulated using US guidance, the VM
should be exsanguinated if possible (to achieve optimal contact between the sclerosant
and endothelium), and additionally, the venous outflow into conducting veins should be
prevented (by manual compression for 10 min or embolized with coil or glue prior to
the sclerosant being injected) [4, 19]. Tourniquets may be required depending on the
venous outflow [4, 7]. Placement of peripheral intravenous line in the affected limb is
recommended for perfusion of heparinized saline to reduce the risk of secondary
thrombosis [2, 7, 12]. Diffuse VMs are managed by targeting specific symptomatic
areas; multiple procedures are required, combining with resection [2, 4, 12]. Patients
with large VMs should be hospitalized [11, 14].
Post-procedure care for small VM includes elevation of treated area and for large
VM elevation of the limb, IV rehydration, analgesics, anti-inflammatory medications,
corticosteroids, and LMWH [12, 13, 19]. When it is possible, compression garments
are placed post-procedure to augment the effects of sclerotherapy [4]. The patients are
reassessed 6–8 weeks after the procedure, with US and MRI evaluation, and the
procedure is often repeated if needed [4, 19].
Local complications observed after sclerotherapy of VMs are pain, skin necrosis,
skin erythema, blistering, bleeding, and nerve injuries [2, 7–9, 12, 17–20].
Extravasation of the sclerosant into muscle can cause fibrosis and secondary
contractures [2, 11]. Systemic adverse events following sclerotherapy include
hemolysis, hemoglobinuria, and DIC [2, 7, 19]. Among the sclerosing agents, the highest
complication rate is associated with ethanol (12%) [7, 8, 12, 19]. Conventional
sclerotherapy agents combined with vascular devices such as coils, liquid embolization
agents, or laser ablation may be helpful for children with rapid outflow or with lager
VM [4, 7].

15.4.3 Surgical Excision

In selected patients, surgical treatment of VMs can be effective [10, 11]. Localized,
accessible, small VMs that do not involve vital structures can be treated surgically
(complete excision), and for more extensive lesions, subtotal resection is indicated
(Fig.15.6a–e) [2, 4, 5, 9, 11, 13, 17]. If there is extensive tissue loss after resection of
VM, skin grafts or flaps can be used for defect reconstruction [9]. Intra-articular VMs
are also resected in most cases to prevent ongoing joint damage or pain [4].
Sclerotherapy prior to operative intervention helps to decrease the risks of
intraoperative bleeding; however, scars can make it difficult to identify important nerve
and vessels [2, 4, 9, 13]. Surgery is first-line therapy for GVM lesions whenever it is
possible [2, 4, 5].
Fig. 15.6 Surgical treatment of deep localized venous malformation: (a) preoperative view; (b) magnetic resonance
imaging of the left brachial region; (c, d) intraoperative view; (e) complete excision of venous malformation

15.4.4 Laser Ablation

Laser can only penetrate 1–3 mm, and it can only be used for VM of this size [9].
Neodymium-doped yttrium aluminum garnet (Nd:YAG) laser (1064 nm wavelength) is
mostly used for treatment of VMs, and it can also be used as an adjuvant to
sclerotherapy [2, 4, 9, 13]. Laser treatment is often used in the head and neck region
(multiple sessions usually required) [4]. Potassium titanyl phosphate (KTP) laser and
pulsed-dye laser (PDL) are also used for treatment of VMs [9, 13]. Endovenous laser
treatment (EVLT) can be used for treatment of phlebectatic and spongiform VMs in
pediatric population [4, 6].

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Index
A
Accessory tragus
Acquired melanocytic nevi (AMN)
Acrosyndactyly
Alloplastic
Alveolar cleft
Amastia
Amazia
Anotia
Apert’s syndrome
Apical ectodermal ridge (AER)
Apoptosis
Artificial skin
Atelectasis
Athelia
Atresiaplasty
Atypical melanocytic nevus
Atypical mole syndrome
Atypical spitzoid neoplasm (ASN)
Augmentation mammaplasty
Auricular molding

B
Benign skin tumors
Bilateral cleft lip
Bleomycin
Blue nevi
Blue rubber bleb nevus (BRBN) syndrome
Brachydactyly
Branchial arch anomalies (BAAs)
Breast anatomy
Breast asymmetry
Breast augmentation
Breast carcinoma
Breast development
Breast embriology
Breast hyperplasia
Breast hypoplasia
Breast infection

C
Café-au-lait macula
Camptodactyly
Capillary-lymphatic-venous malformation (CLVM)
Capillary malformation (CM)
Capsular contracture
Cartilage framework
Cat scratch disease
Central polydactyly
Cephalocele
Cervical chondrocutaneous branchial remnants (CCBRs)
Cervical lymphadenopathy
Cervical teratoma
Chemotherapy
Chongchet technique
Circular excision and “purse-string” closure
Cleft lip (CL)
Cleft lip and palate (CLP)
Cleft palate (CP)
Clinodactyly
Combined lymphatic malformation
Combined vascular malformation
Complex syndactyly
Complicated syndactyly
Congenital constriction band syndrome (CCBS)
Congenital hemangioma (CH)
Congenital leukemia cutis
Congenital lipomatous over-growth, vascular malformations, epidermal nevi and
scoliosis or skeletal and spinal anomalies (CLOVES) syndrome
Congenital melanocytic nevi (CMN)
Congenital nevus like nevus (CNLN)
Constricted ear
Converse technique
Corticosteroids
Cryptotia
Cultured skin substitutes (CSS)

D
Deep hemangioma
Dermal sinus tract
Dermatofibroma
Dermatofibrosarcoma protuberans (DFSP)
Dermoid cysts
Disseminated intravascular coagulation
Double opposing Z-palatoplasty
Doxycycline
Dual plane technique

E
Ear deformities
Ear splinting
Endoscopic endonasal skullbase surgery (EESS)
Endothelial progenitor cell (EPC)
Epidermal inclusion cyst
Epidermal nevus
Epithelioma calcificans
Ethanol
Ex-utero intrapartum treatment (EXIT)

F
Feeding counseling
Fibroadenoma
Fibroblast growth factors (FGF)
Fibroblastyc tumors
Fine needle aspiration biopsy (FNAB)
First branchial arch anomalies
Floating fingers
Focal hemangioma
Fourth branchial arch anomalies
Furnas technique
G
Galactocele
Ganglion
Generalized lymphatic malformation
Genetic counseling
Gibson and Davis principle
Gingivoperiosteoplasty (GPP)
Glomuvenous malformation (GVM)
Glucose transporter protein
Gorham Stout syndrome
Gynecomasty

H
Halo nevus
Hemangioendothelioma
Hemangioma-derived endothelial progenitor cell (HemEPC)
Hemifacial microsomia
Hidradenitis suppurativa
Hodgkin lymphoma (HL)
Horlock, Misra and Gault technique
Horner syndrome
Hypertrophic scar
Hypomasty

I
Immunohistochemical markers
Implant placement
Implant rupture
Indeterminate hemangioma
Infantile fibrosarcoma (IF)
Infantile hemangiomas (IHs)
Infantile myofibroma
Inframammary approach
Interferons
Isolated cleft palate

K
Kasabach-Merritt phenomenon (KMP)
Keloid
Kirner’s deformity

L
Langerhan cell histocytosis (LCH)
Laser treatment
Leiomyoma
Lesser form cleft lip
Lipoaugmentation
Lipoma
Liposuction
Lobuloplasty
Localized intravascular coagulopathy (LIC)
Longitudinal melanonychia
Low molecular weight heparin (LMWH)
LUMBAR syndrome
Lymphatic malformation (LM)
Lymphoedema

M
Macrocystic lymphatic malformation
Macrodactyly
Maffucci’s syndrome
Malignant peripheral nerve sheath tumor
Mamillary line
Mammary ptosis
Mastopexy
Melanocytic nevi
Melanoma
Meningocele
Microcystyc lymphatic malformation
Microtia
Mitten hand
Mixed hemangioma
Mixed polydactyly
Mongolian spot
Multifocal hemangioma
Mustardé technique
Myofibroblastic tumors
N
Nasal dermoid cyst and sinus (NDCS)
Nasal gliomas
Neuroblastoma (NB)
Neurocutaneous melanosis (NCM)
Neurofibroma (NF)
Nevus Ito
Nevus Ota
Nevus sebaceous
Nipple discharge
N-myc amplification
Non-Hodgkin lymphoma (NHL)
Noninvoluting congenital hemangioma (NICH)
Non-syndromic clefts

O
OK-432
Operation on placental support
Orthodontic treatment
Otoplasty
Oxford palatoplasty

P
Palatal fistula
Pansyndactyly
Periareolar approach
Phyllodes tumor
Plexiform neurofibroma
Pneumothorax
Poland’s syndrome
Polydactyly
Polymasty
Polythelia
Posterior fossa malformations, hemangioma, arterial anomalies, cardiovascular
anomalies, eye abnormalities, and sternal clefting (PHACES) syndrome
Power assisted liposuction
Precocious puberty
Premature thelarche
Presurgical infant orthopedics (PSIO)
Presurgical nasal and alveolar molding (PNAM)
Primary palate
Prominent ears
Propranolol
Proteus syndrome
Pseudogynecomasty
Pulmonary fibrosis
Pyogenic granuloma (PG)

R
Rapidly involuting congenital hemangioma (RICH)
Reduction mammaplasty
Rhabdomyosarcoma (RMS)
Rosebud hand

S
Sclerotherapy
Secondary nasal deformities
Secondary palate
Second branchial arch anomalies
Segmental hemangioma
Sentinel lymph node (SLN) biopsy
Sinus preauricularis
Sirolimus
Sistrunk procedure
Soft tissue tumors
Spade hand
Speckled lentiginous nevus (SpLN)
Spitz nevus
Submucous cleft palate
Superficial hemangioma
Syndactyly
Syndromic clefts
Synostosis
Synovial sarcoma (SS)

T
Third branchial arch anomalies
Thumb duplication
Thumb hypoplasia
Thyroglosal duct cyst
Tissue expansion
Topical timolol maleate (TTM)
Transaxillary approach
Transplacental melanoma
Transumbilical approach
Trigger thumb
Triphalangeal thumb (TPT)
Tuberous breasts
Tufted angioma (TA)

U
Ultrasound-assisted liposuction (UAL)
Ultraviolet light
Unilateral cleft lip
Unilateral cleft lip repair
Unilateral complete cleft lip and palate

V
Vascular anomalies
Vascular endothelial growth factor (VEGF)
Vascular malformations
Velopharyngeal insufficiency (VPI)
Venous malformation (VM)
Verrucous hemangioma (VH)
Virginal hypertrophy

W
Web creation
Web creep
Weerda technique

Z
Zigzag incision