Neurocutaneous disorders / edited by E. Steve Roach and Van S. Miller.

Format:

Book

Contributor:

Roach, E. S. (Ewell Steve), editor.

Miller, Van S., editor.

Language:

English

Subjects (All):

Neurocutaneous disorders.

Skin--Diseases.

Skin.

Physical Description:

1 online resource (xvii, 338 pages) : digital, PDF file(s).

Edition:

1st ed.

Place of Publication:

Cambridge : Cambridge University Press, 2004.

Language Note:

English

Summary:

The neurocutaneous disorders comprise a large group of neurological syndromes that feature skin lesions and often eye lesions, central and peripheral nervous system tumors, brain malformations, mental retardation, psychiatric symptoms, or seizures. Neurocutaneous syndromes have been known for centuries, but recent research into their cellular, biochemical and molecular-genetic basis has pointed to an essential need for a genotypic nosology. In this book, a distinguished team of editors and authors provides an authoritative, illustrated, up-to-the-minute review of the current understanding of phenotype-genotype relationships in these disorders, as well as their recognition, investigation and treatment. It will be essential reading for all neurologists as well as dermatologists, geneticists and pediatricians.

Contents:

Introduction / E. Steve Roach

Genetics of neurocutaneous disorders / Kit-Sing Au and Hope Northrup

Clinical recognition / Golder N. Wilson

Neurofibromatosis type 1 / Joshua Goldstein and David H. Gutmann

Neurofibromatosis type 2 / D. Gareth R. Evans

Tuberous sclerosis complex / E. Steve Roach

von Hippel-Lindau disease / Noel Baker and James A. Armstrong

Neurocutaneous melanosis / Van S. Miller

Nevoid basal cell carcinoma (Gorlin) syndrome / Robert J. Gorlin

Epidermal nevus syndromes / Jeffrey L. Sugarman and Ilona J. Frieden

Multiple endocrine neoplasia type 2 / Jeffrey B. Boord and Lewis S. Blevins

Ataxia-telangiectasia / Van S. Miller

Incontinentia pegment / Van S. Miller

Hypomelanosis of Ito / Ignacio Pascuel-Castroviejo.

Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy / Pedro Mancias and Ian J. Butler

Cerebrotendinous xanthomatosis / Aad Verrips, Johannes R.M. Cruysberg and Ron A. Wevers

Adrenoleukodystrophy / Hugo W. Moser and Bjorn M. van Geel

Peroxisomal disorders / Jeffrey Kane and E. Steve Roach

Familial dysautonomia / Felicia B. Axelrod

Fabry disease / E. Steve Roach

Giant axonal neuropathy / Robert Chudnow

Chediak-Higashi syndrome / Roula A. Farah and Zora R. Rogers

Encephalocraniocutaneous lipomatosis / Marvin A. Fishman

Cerebello-trigemino-dermal dysplasia / Maria Verónica Muñoz Rojas, António Carlos dos Santos and João Monteiro de Pina Neto

Coffin-Siris syndrome: clinical delineation; differential diagnosis and long-term evolution / Jean-Pierre Fryns

Lipoid proteinosis / Donna E. Newsome

Macrodactyly-nerve fibrolipoma / E. Steve Roach.

Cowden disease / G.W. Padberg

Pseudoxanthoma elasticum / Kenneth H. Neldner and E. Steve Roach

Ehlers-Danlos syndromes / E. Steve Roach and Carol Zimmerman

Hutchinson-Gilford progeria syndrome / E. Steve Roach

Blue rubber bleb nevus syndrome / John M. Anderson

Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu) / Michael Morgan Dowling

Hereditary neurocutaneous angiomatosis / Richard LeBlanc

Cutaneous hemangiomas: vascular anomaly complex / Ignacio Pascual-Castroviejo

Sturge-Weber syndrome / Anthony R. Riela and E. Steve Roach

Lesch-Nyhan syndrome / William L. Nyhan

Multiple carboxylase deficiency / Gerald M. So

Homocystinuria due to cystathionine [beta]-synthase (CBS) deficiency / Raffaella de Franchis, Ennio del Giudice and Generoso Andria

Fucosidosis / Michel Philippart

Menkes disease / Zeynep Tümer and Nina Horn.

Notes:

Title from publisher's bibliographic system (viewed on 05 Oct 2015).

Includes bibliographical references and index.

ISBN:

1-107-14329-2

1-280-44915-2

9786610449156

0-511-16525-0

0-511-16560-9

0-511-16367-3

0-511-31261-X

0-511-54505-3

0-511-16447-5

OCLC:

171138165