Spitz_Genodermatoses, 3e

Contents

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

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