图书简介
This fully revised and updated edition of GENETIC SKIN DISORDERS reflects the most current understanding of the diagnosis, treatment, genetic basis, and differential diagnoses of inherited skin disorders.
Contents; Preface; Acknowledgments; Introduction; 1. PRACTICAL INHERITANCE; 2. DISORDERS OF THE EPIDERMIS: DIFFERENTIATION AND KINETICS; Ichthyoses; Bullous Congenital Ichthyosiform Erythroderma; Harlequin Ichthyosis; Ichthyosis Bullosa of Siemens; Ichthyosis Hystrix; Ichthyosis Vulgaris; Lamellar Exfoliation of the Newborn; Lamellar Ichthyosis/Nonbullous Congenital Ichthyosiform Erythroderma; Netherton Syndrome; Peeling Skin Syndrome; Restrictive Dermopathy; X-linked Recessive Ichthyosis; Erythrokeratodermas; 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-Evans; Hereditary Palmoplantar Keratoderma Olmsted; Hereditary Palmoplantar Keratoderma Punctate; Hereditary Palmoplantar Keratoderma Striata; Hereditary Palmoplantar Keratoderma Unna-Thost; Hereditary Palmoplantar Keratoderma Vohwinkel; Keratolytic Winter Erythema; Mal de Meleda; Papillon-Lefevre; 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 Punctata; Ichthyosis with Hypogonadism; KID Syndrome; Neu-Laxova Syndrome; Neutral Lipid Storage Disease with Ichthyosis; Refsum Disease; Richner-Hanhart Syndrome; Sjogren-Larsson Syndrome; Cohesion; Epidermolysis Bullosa; Epidermolysis Bullosa Simplex Dowling-Meara; Epidermolysis Bullosa Simplex Generalized; Epidermolysis Bullosa Simplex Localized; Epidermolysis Bullosa Junctional Generalized; Epidermolysis Bullosa Junctional Generalized Atrophic Benign; Epidermolysis Bullosa Dystrophica Cockayne-Touraine; Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens; Epidermolysis Bullosa Dystrophica Pretibial; Transient 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, Isolated; Monilethrix; Pili Annulati; Pili Torti; Pili Trianguli Et Canaliculi; Trichorrhexis Invaginata; Trichorrhexis Nodosa; Woolly Hair; Hair Shaft Abnormalities, Syndromic; Menkes Disease; Trichodentoosseous Syndrome; Trichorhinophalangeal Syndrome; Trichothiodystrophy; Nails; Nail Disorders, Isolated; Congenital Malalignment of the Great Toenails; Familial Dystrophic Shedding of the Nails; Leukonychia; Twenty-Nail Dystrophy; Nail Disorders, Syndromic; Nail-Patella Syndrome; Onychotrichodysplasia and Neutropenia; Pachyonychia Congenita; Sweat Glands; Hidradenitis Suppurativa; Hyperhidrosis; Multiple Syringomas; Sebaceous Glands; Eruptive Vellus Hair Cysts; Familial Dyskeratotic Comedones; Oral-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 syndrome; Hemochromatosis; Incontinentia Pigmenti; LEOPARD Syndrome; Linear and Whorled Nevoid Hypermelanosis; McCune-Albright Syndrome; Naegeli Syndrome; Neurofibromatosis; Nevus Phakomatosis Pigmentovascularis; Peutz-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 VIII; Reactive Perforating Collagenosis; Elastin; Costello Syndrome; Cutis Laxa; Pseudoxanthoma Elasticum; Vascular; 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; Francois Syndrome; Hyaline Fibromatosis Syndrome; Lipoid Proteinosis; Multiple Pterygia; 6. 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 Pigmentosa; 9. OTHER DISORDERS; Congenital Erosive and Vesicular Dermatosis; Erythromelalgia; Michelin Tire Baby; Stiff Skin; 10. TUMORS/HAMARTOMAS; Basal Cell Nevus Syndrome; Cowden syndrome; Cylindromatosis; Dysplastic Nevus Syndrome; Epidermal Nevus; Gardner Syndrome; Giant Congenital Nevus; Hereditary Keratoacanthomas; Hereditary Leiomyomatosis and Renal Cancer; Infantile Myofibromatosis; Multiple Endocrine Neoplasia Types 1, 2/2A, and 2B/3; Pilomatricoma; Proteus Syndrome; Sebaceous Nevus Syndrome; Tumoral Calcinosis; 11. METABOLIC DISEASE; Porphyrias; Congenital Erythropoietic Porphyria; Erythropoietic Protoporphyria; Hereditary Coproporphyria; Porphyria Cutanea Tarda; Variegate Porphyria; Mucopolysaccharidoses; Hunter Syndrome; Other Metabolic Disorders; Acrodermatitis Enteropathica; Alkaptonuria; Biotinidase Deficiency; Familial Cutaneous Amyloidosis; Prolidase Deficiency; 12. PREMATURE AGING; Cockayne Syndrome; De Barsy Syndrome; Hallermann-Streiff Syndrome; Hutchinson-Gilford Progeria; Werner Syndrome; 13. PHOTOSENSITIVITY; Bloom Syndrome; Hartnup Disorder; Kindler Syndrome; Polymorphous 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
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