Neurocutaneous disorders
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 centur...
| Otros Autores: | , |
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| Formato: | Libro electrónico |
| Idioma: | Inglés |
| Publicado: |
Cambridge :
Cambridge University Press
2004.
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| Colección: | CUP ebooks.
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| Acceso en línea: | Conectar con la versión electrónica |
| Ver en Universidad de Navarra: | https://innopac.unav.es/record=b45460656*spi |
Tabla de Contenidos:
- 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.
