Genodermatoses: A Clinical Guide to Genetic Skin Disorders -- Foreword -- Preface -- Acknowledgments -- Contributors -- Introduction -- Contents -- Disorders of Cornification -- Ichthyosis Vulgaris -- X-linked Ichthyosis -- Epidermolytic Hyperkeratosis -- Lamellar Ichthyosis -- Congenital Ichthyosiform Erythroderma (CIE) -- Harlequin Fetus -- Sjögren-Larsson Syndrome -- Refsum Syndrome -- Conradi-Hünermann Syndrome -- CHILD Syndrome -- Netherton Syndrome -- Erythrokeratoderma Variabilis -- KID Syndrome -- Diffuse Palmoplantar Keratoderma (PPK) -- Howel-Evans Syndrome -- Vohwinkel Syndrome -- Mal de Meleda -- Papillon-Lefèvre Syndrome -- Richner-Hanhart Syndrome -- Darier Disease -- Epidermal Nevus Syndrome -- Suggested Reading -- Chapter 2 -- Disorders of Pigmentation -- Oculocutaneous Albinism Type 1 (OCA1) -- Oculocutaneous Albinism Type II (OCA2) -- Hermansky-Pudlak Syndrome -- Chédiak-Higashi Syndrome -- Griscelli Syndrome -- Piebaldism -- Waardenburg Syndrome -- Hypomelanosis of Ito -- Incontinentia Pigmenti -- LEOPARD Syndrome -- Carney Complex -- McCune-Albright Syndrome -- Neurofibromatosis I -- Neurofibromatosis II -- Tuberous Sclerosis -- Suggested Reading -- Disorders of Vascularization -- Sturge-Weber Syndrome -- Klippel-Trenaunay Syndrome -- Cobb Syndrome -- Proteus Syndrome -- Beckwith-Wiedemann Syndrome -- Von Hippel-Lindau Syndrome -- Ataxia-Telangiectasia -- Hereditary Hemorrhagic Telangiectasia Syndrome -- Cutis Marmorata Telangiectatica Congenita -- Maffucci Syndrome -- Blue Rubber Bleb Nevus Syndrome -- Kasabach-Merritt Syndrome -- Diffuse Neonatal Hemangiomatosis -- PHACE Syndrome -- Suggested Reading -- Disorders of Connective Tissue -- Ehlers-Danlos Syndrome -- Marfan Syndrome -- Cutis Laxa -- Pseudoxanthoma Elasticum -- Osteogenesis Imperfecta -- Buschke-Ollendorff Syndrome -- Focal Dermal Hypoplasia -- Lipoid Proteinosis.

Progeria -- Werner Syndrome -- Aplasia Cutis Congenita -- Suggested Reading -- Disorders With Malignant Potential -- Basal Cell Nevus Syndrome -- Xeroderma Pigmentosum -- Muir-Torre Syndrome -- Dyskeratosis Congenita -- Gardner Syndrome -- Peutz-Jeghers Syndrome -- Cowden Syndrome -- Multiple Endocrine Neoplasia Type IIb -- Birt-Hogg-Dube Syndrome -- Suggested Reading -- Epidermolysis Bullosa -- Epidermolysis Bullosa Simplex -- Junctional Epidermolysis Bullosa (JEB) -- Dystrophic Epidermolysis Bullosa -- Suggested Reading -- Disorders of Porphyrin Metabolism -- Porphyria Cutanea Tarda (PCT) -- Variegate Porphyria (VP) -- Acute Intermittent Porphyria (AIP) -- Hereditary Coproporphyria (HCP) -- Erythropoietic Protoporphyria (EPP) -- Congenital Erythropoietic Porphyria (CEP) -- Hepatoerythropoietic Porphyria (HEP) -- Suggested Reading -- Disorders With Photosensitivity -- Bloom Syndrome -- Rothmund-Thomson Syndrome -- Cockayne Syndrome -- Trichothiodystrophy -- Hartnup Disease -- Suggested Reading -- Disorders With Immunodeficiency -- Wiskott-Aldrich Syndrome -- Chronic Granulomatous Disease -- Hyper-Immunoglobulin E Syndrome -- Severe Combined Immunodeficiency -- Hereditary Angioedema -- Suggested Reading -- Disorders of Hair and Nails -- Menkes' Syndrome -- Björnstad Syndrome -- Argininosuccinic Aciduria -- Monilethrix -- Uncombable Hair Syndrome -- Hypohidrotic Ectodermal Dysplasia -- Hidrotic Ectodermal Dysplasia -- EEC Syndrome -- AEC Syndrome -- Pachyonychia Congenita -- Nail-Patella Syndrome -- Suggested Reading -- Disorders of Metabolism -- Alkaptonuria -- Fabry Disease -- Gaucher Disease -- Niemann-Pick Disease -- Mucopolysaccharidoses -- Multiple Carboxylase Deficiency -- Phenylketonuria -- Wilson's Disease -- Acrodermatitis Enteropathica -- Hemochromatosis -- Homocystinuria -- Hyperlipoproteinemias -- Suggested Reading.

Disorders with Chromosome Abnormalities -- Down Syndrome -- Turner Syndrome -- Noonan Syndrome -- Klinefelter Syndrome -- Suggested Reading -- Disorders with Short Stature -- Cornelia de Lange Syndrome -- Rubinstein-Taybi Syndrome -- Russell-Silver Syndrome -- Familial Dysautonomia -- Suggested Reading -- Support Groups -- Lab Testing Appendix -- Figure Credits -- Index.