Acknowledgments................................................. v
Contributors ............................................................vi
Introduction ............................................................ix
Griscelli Syndrome .......................................................... 68
Piebaldism.......................................................................... 70
Waardenburg Syndrome .............................................. 72
Pigmentary Mosaicism .................................................. 74
Incontinentia Pigmenti.................................................. 76
Noonan Syndrome With Multiple Lentigenes
(Formerly LEOPARD syndrome).................................. 80
Carney Complex............................................................... 82
McCune-Albright Syndrome ....................................... 84
Neurofibromatosis Type 1............................................ 86
Neurofibromatosis Type 2............................................ 90
Tuberous Sclerosis ..........................................................92
CHAPTER 3
Disorders of Vascularization
Clinical Pearls by Ilona J. Frieden, MD (IF), Kim Keppler
Noreuil, MD (KK-N), Andreea Nissenkorn, MD (AN), and
Claire Shovlin, PhD, FRCP (CS)
Sturge-Weber Syndrome (SWS) ...............................104
Klippel-Trenaunay Syndrome ...................................108
Cobb Syndrome .............................................................112
Proteus Syndrome.........................................................114
Beckwith-Wiedemann Syndrome............................118
PIK3CA-Related Overgrowth Spectrum (PROS)......122
Von Hippel-Lindau Syndrome ..................................126
Ataxia-Telangiectasia ...................................................130
Hereditary Hemorrhagic Telangiectasia
(HHT) Syndrome.............................................................134
Cutis Marmorata Telangiectatica Congenita.......138
Maffucci Syndrome.......................................................140
Blue Rubber Bleb Nevus Syndrome........................142
Kasabach-Merritt Phenomenon (KMP) ..................144
Multifocal Infantile Hemangiomas ±
Extracutaneous Disease ..............................................146
PHACE Syndrome ..........................................................148
CHAPTER 4
Disorders of Connective Tissue
Clinical Pearls by David R. Deyle, MD, PhD (DD),
Juoni Uitto, MD, PhD (JU), Ilona J. Frieden, MD (IF),
Jennifer L. Hand, MD (JH), and Marilyn G. Liang, MD (MG).
Ehlers-Danlos Syndrome ............................................158
Marfan Syndrome..........................................................164
Cutis Laxa .........................................................................166
Pseudoxanthoma Elasticum......................................170
Osteogenesis Imperfecta............................................174
Buschke-Ollendorff Syndrome .................................176
CHAPTER 1
Disorders of Keratinization
Clinical Pearls by Philip Fleckman, MD (PF), Jennifer L.
Hand, MD (JH), Francisco Jimenez, MD (FJ), Mazen Kurban,
MD (MK), Leonard Milstone, MD (LM), William Rizzo, MD
(WR), Amy S. Paller, MD (AP), Gabrielle Richard, MD (GR),
Eli Sprecher, MD (ES), and Jeffrey Sugarman, MD, PhD (JS)
Ichthyosis Vulgaris .............................................................2
Recessive X-Linked Ichthyosis .......................................4
Epidermolytic Ichthyosis (EI) and Superficial
Epidermolytic Ichthyosis (SEI)........................................6
Autosomal Recessive Congenital Ichthyosis
(ARCI): Lamellar Ichthyosis ........................................... 10
Congenital Ichthyosiform Erythroderma................ 14
Harlequin Ichthyosis....................................................... 16
Sjögren-Larsson Syndrome.......................................... 18
Refsum Syndrome ........................................................... 20
Conradi-Hünermann Syndrome ................................22
CHILD Syndrome .............................................................24
Netherton Syndrome ..................................................... 26
Erythrokeratodermia Variabilis................................... 28
KID Syndrome ................................................................... 30
Diffuse Palmoplantar Keratoderma .......................... 32
Howel-Evans Syndrome ................................................ 34
Vohwinkel Syndrome..................................................... 36
Mal de Meleda .................................................................. 38
Papillon-Lefèvre Syndrome ......................................... 40
Richner-Hanhart Syndrome......................................... 42
Darier Disease ................................................................... 44
Epidermal Nevus Syndrome (ENS) ............................ 46
CHAPTER 2
Disorders of Pigmentation
Clinical Pearls by C. Gail Summers, MD (GS), Diana H. Lee,
MD (DL), Seth Orlow, MD, PhD (SO), Jean Bolognia, MD
(JB), Sharon Glick, MD (SG), Dawn Siegel, MD (DS), Robert
Silverman, MD (RS), Jennifer L. Hand, MD (JH), Amy S.
Paller, MD (AP), and D. Gareth R. Evans, MD (GE).
Oculocutaneous Albinism Type 1.............................. 58
Oculocutaneous Albinism Type 2.............................. 60
Hermansky-Pudlak Syndrome .................................... 62
Chédiak-Higashi Syndrome ......................................... 66

Focal Dermal Hypoplasia............................................178
Lipoid Proteinosis..........................................................180
Progeria............................................................................. 182
Werner Syndrome..........................................................184
Aplasia Cutis Congenita...............................................186
CHAPTER 5
Disorders With Malignant
Potential
Clinical Pearls by Lawrence Eichenfield, MD (LE), and
Jennifer L. Hand, MD (JH)
Basal Cell Nevus Syndrome........................................196
Lynch Syndrome, Muir-Torre Variant......................200
Dyskeratosis Congenita...............................................202
Gardner Syndrome........................................................206
Peutz-Jeghers Syndrome............................................208
Cowden Syndrome........................................................210
Multiple Endocrine Neoplasia Type IIB..................212
Birt-Hogg-Dube Syndrome........................................214
CHAPTER 6
Epidermolysis Bullosa
Clinical Pearls by Anne W. Lucky, MD (AL) and
Anna L. Bruckner, MD (AB)
Epidermolysis Bullosa Simplex..................................222
Junctional Epidermolysis Bullosa.............................226
Dystrophic Epidermolysis Bullosa............................230
Kindler Epidermolysis Bullosa...................................234
CHAPTER 7
Disorders of Porphyrin Metabolism
Clinical Pearls by Jennifer Hand, MD (JH) and
Lisa A. Drage, MD (LD)
Porphyria Cutanea Tarda............................................240
Variegate Porphyria......................................................244
Acute Intermittent Porphyria....................................246
Hereditary Coproporphyria........................................248
Erythropoietic Protoporphyria..................................250
Congenital Erythropoietic Porphyria......................254
Hepatoerythropoietic Porphyria..............................256

CHAPTER 8
Disorders With Photosensitivity
Clinical Pearls by Lawrence Eichenfield, MD (LE),
Kurt Hirschhorn, MD (KH), Harvey Levy, MD (HL),
Moise Levy, MD (ML), and Mark Pittelkow, MD (MP)
Bloom Syndrome...........................................................262
Rothmund-Thomson Syndrome..............................266
Cockayne Syndrome.....................................................270
Trichothiodystrophy.....................................................274
Xeroderma Pigmentosum..........................................278
Hartnup Disease.............................................................282
CHAPTER 9
Disorders With Immunodeficiency
Clinical Pearls by Moise Levy, MD (ML)
Wiskott-Aldrich Syndrome.........................................288
Chronic Granulomatous Disease..............................290
Hyper-Immunoglobulin E Syndrome.....................294
Severe Combined Immunodeficiency....................296
Hereditary Angioedema..............................................300
CHAPTER 10
Disorders of Hair and Nails
Clinical Pearls by David Whiting, MD (DW),
Bernice Krafchik, MD (BK), Joel Spitz, MD (JS), Kurt
Hirschhorn, MD (KH), Judith Willner, MD (JW), Jackson
Glenn Turbeville, MD (JT), and Jennifer L. Hand, MD (JH)
Menkes Syndrome.........................................................306
Björnstad Syndrome.....................................................308
Argininosuccinic Aciduria...........................................310
Monilethrix.......................................................................312
Uncombable Hair Syndrome.....................................314
Hypohidrotic Ectodermal Dysplasia........................316
Hidrotic Ectodermal Dysplasia..................................320
Ectrodactyly-Ectodermal Dysplasia-Cleft
Syndrome. ........................................................................322
Ankyloblepharon-Ectodermal
Dysplasia-Cleft Lip/Palate (AEC) Syndrome.........324
Pachyonychia Congenita............................................328
Nail-Patella Syndrome..................................................332

CHAPTER 11
Disorders of Metabolism
Clinical Pearls by Kurt Hirschhorn, MD (KH),
CHAPTER 13
Disorders With Short Stature
Clinical Pearls by Kurt Hirschhorn, MD (KH) Judith Willner,
MD (JW), and Jennifer L. Hand, MD (JH)
Cornelia de Lange Syndrome....................................396
Rubinstein-Taybi Syndrome......................................398
Russell-Silver Syndrome..............................................400
Familial Dysautonomia................................................402
Figure Credits......................................................407
Index....................................................................... 411
Judith Willner, MD (JW), and Jennifer L. Hand, MD (JH)
Alkaptonuria....................................................................340
Fabry Disease...................................................................342
Gaucher Disease.............................................................346
Niemann-Pick Disease..................................................350
Mucopolysaccharidoses..............................................354
Multiple Carboxylase Deficiency..............................358
Phenylketonuria.............................................................360
Wilson Disease................................................................362
Acrodermatitis Enteropathica...................................364
Hemochromatosis.........................................................366
Homocystinuria..............................................................368
Hyperlipoproteinemias................................................370
CHAPTER 12
Disorders With Abnormal
Chromosome Number
Clinical Pearls by Kurt Hirschhorn, MD (KH),
Judith Willner, MD (JW), Jillian F. Rork, MD (JR),
Kishore Vellody, MD (KV), and Jennifer L. Hand, MD (JH)
Down Syndrome............................................................380
Turner Syndrome...........................................................384
Noonan Syndrome........................................................388
Klinefelter Syndrome....................................................390