Genetic skin disorders

Author(s)

• Sybert, Virginia P.

Bibliographic Information

Genetic skin disorders

Virginia P. Sybert

（Oxford monographs on medical genetics, no. 60）

Oxford University Press, c2010

2nd ed

Note

Includes bibliographical references and index

Description and Table of Contents

Description

This valuable text represents a comprehensive survey of well over 300 distinct inherited dermatologic conditions. Each disease entry follows a consistent format, allowing the clinician to quickly scan and access key information for differential diagnosis. Each entry contains sections devoted to dermatologic features, associated clinical abnormalities, histopathology, biochemical and molecular information, treatment, mode of inheritance and recurrence risk, prenatal diagnosis, and information on differential diagnosis. In addition the author has included support group listings and detailed annotated references which will be of invaluable benefit for clinicians. The book is lavishly illustrated with color photos to illustrate the conditions and conditions are grouped into categories reflecting the primary site of the major dermatologic features to aid the clinician encountering a condition for the first time. The material is well- written and presented in a highly engaging, reader-friendly voice which makes the content interesting and accessible to the geneticist and non-geneticist alike. This invaluable resource reflects the author's extensive clinical experience and expertise in genetics and dermatology that provides a clear and critical synthesis of information on the genetics of diseases affecting the skin. Any clinician faced with a patient in whom the possibility for a genetic disorder of the skin exists will find this book a practical tool of immense interest. The new edition reflects a decade of new research advances in our understanding of the molecular basis for these conditions. Major additions have been added for over 150 of the entries, including information on treatment advances and advances in the natural history of disorders. All references have been updated as well as support group information and website resources.

Table of Contents

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-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 Sjoegren-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 Francois 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

by "Nielsen BookData"

Details

• NCID: BB1291198X
• ISBN:
  • 9780195397666
• LCCN: 2009018996
• Country Code: us
• Title Language Code: eng
• Text Language Code: eng
• Place of Publication: New York
• Pages/Volumes: xxi, 762 p.
• Size: 26 cm
• Classification:
  • LCC : RL793
  • NLM : 2010 H-529
  • NLM : WR 218
  • DC22 : 616.5/042
• Subject Headings:
  • LCSH : Skin -- Diseases -- Genetic aspects
  • MESH : Skin Diseases, Genetic -- diagnosis
  • MESH : Diagnosis, Differential
• Parent Bibliography ID:
  • BA00538010