Genetic Skin Disorders

Virginia P. Sybert MD is Clinical Professor in Medical Genetics at the University of Washington and a practicing pediatric dermatologist at Group Health Cooperative in Seattle, Washington. She is an international recognized expert in inherited skin disorders.

• ContentsPreface Acknowledgments Introduction 1. PRACTICAL INHERITANCE2. DISORDERS OF THE EPIDERMIS: DIFFERENTIATION AND KINETICS Ichthyoses Bullous Congenital Ichthyosiform Erythroderma Harlequin Ichthyosis Ichthyosis Bullosa of Siemens Ichthyosis Hystrix Ichthyosis VulgarisLamellar Exfoliation of the NewbornLamellar Ichthyosis/Nonbullous Congenital Ichthyosiform Erythroderma Netherton Syndrome Peeling Skin SyndromeRestrictive Dermopathy X-linked Recessive IchthyosisErythrokeratodermas Erythrokeratodermia Variabilis et Progressiva Pityriasis Rubra Pilaris Acrokeratoderma Acrokeratoelastoidosis Acrokeratosis Verruciformis (Hopf)Hereditary Palmoplantar Keratodermas Hereditary Palmoplantar Keratoderma with Deafness Hereditary Palmoplantar Keratoderma Epidermolytic Hyperkeratosis Hereditary Palmoplantar Keratoderma Howel-EvansHereditary Palmoplantar Keratoderma Olmsted Hereditary Palmoplantar Keratoderma Punctate Hereditary Palmoplantar Keratoderma Striata Hereditary Palmoplantar Keratoderma Unna-Thost Hereditary Palmoplantar Keratoderma VohwinkelKeratolytic Winter Erythema Mal de Meleda Papillon-Lefèvre Scleroatrophic and Keratotic Dermatosis of the Limbs Porokeratoses Porokeratosis of Mibelli Other Disorders of the Epidermis Absence of Dermatoglyphics Acanthosis Nigricans Darier-White Disease Hereditary Painful Callosities Keratosis Follicularis Spinulosa Decalvans Knuckle Pads Kyrle/Flegel Disease Ulerythema Ophryogenes Syndromic Disorders CHILD Syndrome Chondrodysplasia PunctataIchthyosis with Hypogonadism KID Syndrome Neu-Laxova Syndrome Neutral Lipid Storage Disease with Ichthyosis Refsum Disease Richner-Hanhart Syndrome Sjögren-Larsson Syndrome CohesionEpidermolysis Bullosa Epidermolysis Bullosa Simplex Dowling-Meara Epidermolysis Bullosa Simplex Generalized Epidermolysis Bullosa Simplex LocalizedEpidermolysis Bullosa Junctional Generalized Epidermolysis Bullosa Junctional Generalized Atrophic Benign Epidermolysis Bullosa Dystrophica Cockayne-Touraine Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Epidermolysis Bullosa Dystrophica PretibialTransient Bullous Dermolysis of the Newborn Hailey-Hailey Disease 3. DISORDERS OF EPIDERMAL APPENDAGES Hair Alopecias Loose Anagen Hair Male Pattern Baldness Marie Unna Syndrome Hirsutism Gingival Fibromatosis and Hypertrichosis Hypertrichosis Lanuginosa Congenita Leprechaunism Localized Hypertrichosis Hair Shaft Abnormalities, IsolatedMonilethrix Pili AnnulatiPili Torti Pili Trianguli Et Canaliculi Trichorrhexis InvaginataTrichorrhexis Nodosa Woolly Hair Hair Shaft Abnormalities, Syndromic Menkes Disease Trichodentoosseous Syndrome Trichorhinophalangeal Syndrome Trichothiodystrophy Nails Nail Disorders, IsolatedCongenital Malalignment of the Great ToenailsFamilial Dystrophic Shedding of the Nails LeukonychiaTwenty-Nail Dystrophy Nail Disorders, Syndromic Nail-Patella SyndromeOnychotrichodysplasia and Neutropenia Pachyonychia Congenita Sweat GlandsHidradenitis SuppurativaHyperhidrosis Multiple Syringomas Sebaceous Glands Eruptive Vellus Hair CystsFamilial Dyskeratotic ComedonesOral-Facial-Digital Syndrome Type I Steatocystoma Multiplex Ectodermal Dysplasia Syndromes AEC Syndrome Clouston Syndrome EEC Syndrome Focal Facial Dermal Dysplasia Gapo Syndrome Hypohidrotic Ectodermal Dysplasia Tooth and Nail Syndrome 4. DISORDERS OF PIGMENTATION Hyperpigmentation Carney Complex Dowling-Degos Disease Dyskeratosis Congenita Fanconi Anemia H syndromeHemochromatosis Incontinentia Pigmenti LEOPARD Syndrome Linear and Whorled Nevoid Hypermelanosis McCune-Albright SyndromeNaegeli Syndrome Neurofibromatosis Nevus Phakomatosis PigmentovascularisPeutz-Jeghers Syndrome Universal Melanosis Hypopigmentation Albinisms Albinism with Deafness Hermansky-Pudlak Syndrome Oculocutaneous Albinism Tyrosinase Negative Oculocutaneous Albinism Tyrosinase Positive Yellow Mutant Albinism Cross Syndrome Hypomelanosis of Ito Piebaldism Premature Canities Vitiligo Waardenburg Syndrome Types 1, 2, 3, and 4 5. DISORDERS OF THE DERMIS Collagen Ainhum Amniotic Bands Buschke-Ollendorff Syndrome Dermatosparaxis Ehlers-Danlos Syndromes Ehlers-Danlos Types I, II, and III Ehlers-Danlos Type IV Ehlers-Danlos Type VI Ehlers-Danlos Type VIIIReactive Perforating CollagenosisElastin Costello Syndrome Cutis Laxa Pseudoxanthoma ElasticumVascular Ataxia Telangiectasia Venous Malformations, Multiple Cutaneous and Mucosal Cutis Marmorata Telangiectatica Congenita Fabry Syndrome Familial Flame Nevi Hereditary Glomus Tumors Hereditary Hemorrhagic Telangiectasia Klippel-Trenaunay-Weber Syndrome Maffucci Syndrome Sturge-Weber Syndrome Mixed Aplasia Cutis Congenita Focal Dermal Hypoplasia Tuberous Sclerosis Complex Other Disorders of the Dermis Albright Hereditary Osteodystrophy Cutis Verticis Gyrata Familial Dysautonomia François Syndrome Hyaline Fibromatosis Syndrome Lipoid Proteinosis Multiple Pterygia6. DISORDERS OF SUBCUTANEOUS TISSUE Cerebrotendinous Xanthomatosis Familial Multiple Lipomatosis Familial Symmetric Lipomatosis Fibrodysplasia Ossificans Progressiva Lipogranulomatosis Partial Lipodystrophy Berardinelli-Seip Syndrome 7. LYMPHEDEMA Cholestasis-Lymphedema Syndrome Distichiasis and Lymphedema Hereditary Lymphedema 8. URTICARIA Familial Cold Urticaria Hereditary Angioedema Melkersson-Rosenthal Syndrome Muckle-Wells Syndrome NOMID/CINCA Urticaria Pigmentosa9. OTHER DISORDERS Congenital Erosive and Vesicular DermatosisErythromelalgia Michelin Tire Baby Stiff Skin10. TUMORS/HAMARTOMAS Basal Cell Nevus Syndrome Cowden syndrome Cylindromatosis Dysplastic Nevus Syndrome Epidermal Nevus Gardner SyndromeGiant Congenital NevusHereditary Keratoacanthomas Hereditary Leiomyomatosis and Renal CancerInfantile Myofibromatosis Multiple Endocrine Neoplasia Types 1, 2/2A, and 2B/3 PilomatricomaProteus Syndrome Sebaceous Nevus SyndromeTumoral Calcinosis 11. METABOLIC DISEASE Porphyrias Congenital Erythropoietic Porphyria Erythropoietic ProtoporphyriaHereditary Coproporphyria Porphyria Cutanea Tarda Variegate PorphyriaMucopolysaccharidoses Hunter Syndrome Other Metabolic Disorders Acrodermatitis Enteropathica Alkaptonuria Biotinidase Deficiency Familial Cutaneous AmyloidosisProlidase Deficiency 12. PREMATURE AGING Cockayne Syndrome De Barsy Syndrome Hallermann-Streiff SyndromeHutchinson-Gilford Progeria Werner Syndrome 13. PHOTOSENSITIVITY Bloom Syndrome Hartnup Disorder Kindler SyndromePolymorphous Light Eruption Rothmund-Thomson Syndrome Xeroderma Pigmentosum 14. IMMUNE DEFICIENCY DISEASES Chediak-Higashi Disease Chronic Granulomatous Disease Epidermodysplasia Verruciformis Familial Mucocutaneous Candidiasis Griscelli Syndrome Types 1,2 and 3 Job Syndrome Mucoepithelial Dysplasia Wiskott-Aldrich Syndrome Appendix A: Glossary Appendix B: Differential Diagnosis by Skin Sign Figure Credits Index

"In the preface, the author asks, 'why another book on inherited skin diseases? Why a book at all in the era of Web crawlers and e-readers?'. My answer is crystal clear: 'No doubt, this textbook is extremely valuable to have in the clinic's library when seeing patients with suspected genodermatosis!" -Acta Dermato-Venereologica