Genetic Skin Disorders

Contents 1. PRACTICAL INHERITANCE 2. DISORDERS OF THE EPIDERMIS Ichthyoses Bullous Congenital Ichtyosiform Erythroderma Continual peeling skin Harlequin fetus Ichthyosis bullosa of Siemens Ichthyosis hystrix Ichthyosis vulgaris Lamellar exfoliation of the newborn Lamellar ichthyosis Netherton syndrome Restrictive dermopathy X-linked recessive ichthyosis Erythrokeratodermas Erythrokeratodermia variabilis Pityriasis rubra pilaris Progressive symmetric erythrokeratoderma Acrokeratoderma Acrokeratoelastoidosis Acrokeratosis verruciformis 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-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 punctata Ichthyosis with hypogonadism KID syndrome Neu-Laxova syndrome Neutral lipid storage disease with ichthyosis Refsum disease Richner-Hanhart syndrome Sjögren-Larsson syndrome 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 dermatolysis 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 Polycystic ovarian disease 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 Trichodentoosseus syndrome Tricho-rhino-phalangeal syndrome Trichothiodystrophy 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 congenital Sweat Glands Hidradenitis Suppurativa Hyperhidrosis Multiple Syringomas Sebaceous Glands Eruptive Vellus Hair Cysts Familial Dyskeratotic Comedones Oral-facial-digital syndrome type I Steatocystoma Multiplex Ectoder Ectodermal Dysplasia Syndromes AEC Syndrome Clouston Syndrome EEC Syndrome Focal Facial Ectodermal Dysplasia Gapo Syndrome Hypohidrotic Ectodermal Dysplasia Tooth and Nail Syndrome 4. DISORDERS OF PIGMENTATION Hyperpigmentation Carney complex Dowling-Degos disease Dyskeratosis congenita Fanconi anemia 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, and 3 5. DISORDERS OF THE DERMIS Collagen Ainhum Amniotic bands Buschke-Ollendorff syndrome Dermatosparaxis Ehlers-Danlos Introduction 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 Blue rubber bleb nevus syndrome 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 Other disorders of the dermis Albright hereditary osteodystrophy Cutis verticis gyrate Familial dysautonomia François syndrome Lipoid proteinosis Multiple pterygia Systemic hyalinosis 6. DISORDERS OF SUBCUTANEOUS TISSUE Cerebrotendinous xanthomatosis Familial multiple lipomatosis Familial symmetric lipomatosis Fibrodysplasia ossificans progressiva Lipogranulomatosis Partial lipodystrophy Seip-Berardinelli syndrome 7. LYMPHEDEMA Cholestasis-lymphedema Distichiasis and lymphedema Hereditary lymphedema 8. URTICARIA Familial cold urticaria Hereditary angioneurotic edema 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 Bathing trunk nevus Cowden disease Cylindromatosis Dysplastic nevus syndrome Epidermal nevus Gardner syndrome Hereditary keratoacanthomas Infantile myofibromatosis Multiple endocrine neoplasia types 1, 2A/2B, Multiple leiomyomatosis 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 Job syndrome Mucoepithelial dysplasia Wiskott-Aldrich syndrome APPENDIX A. GLOSSARY APPENDIX B. DIFFERENTIAL DIAGNOSIS BY SKIN SIGN FIGURE CREDITS INDEX