Spitz_Genodermatoses, 3e

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 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 Disorders of Hair and Nails Clinical Pearls by David Whiting, MD (DW),

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

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