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 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.

Spis treści:
Dedication
Foreword Roger N. Rosenburg
Preface
1. Introduction E. Steve Roach
2. Genetics of neurocutaneous disorders Kit-Sing Au and Hope Northrup
3. Syndrome/clinical recognition Golder N. Wilson
4. Neurofibromatosis type 1 Joshua Goldstein and David H. Gutmann
5. Neurofibromatosis type 2 D. Gareth R. Evans
6. Tuberous sclerosis complex E. Steve Roach
7. Von Hippel-Lindau disease Noel Baker and James A. Armstrong
8. Neurocutaneous melanosis Van S. Miller
9. Basal Cell Nevus syndrome Robert J. Gorlin
10. Epidermal Nevus syndrome Jeffrey L. Sugarman and Ilona J. Frieden
11. Multiple endocrine neoplasia type 2 Jeffrey B. Boord and Lewis S. Blevins
12. Ataxia-telangiectasia Van S. Miller
13. Incontinentia pigmenti Van S. Miller
14. Hypomelanosis of Ito Ignatio Pascual–Castroviejo
15. Cowden disease G. W. Padberg
16. Pseudoxanthoma elasticum Kenneth H. Neldner and E. Steve Roach
17. Ehlers–Danlos syndrome E. Steve Roach and Carol Zimmerman
18. Progeria E. Steve Roach
19. Blue Rubber Bleb Nevus syndrome John M. Andersen
20. Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu) Michael Morgan Dowling
21. Hereditary neurocutanous angiomatosis Richard LeBlanc
22. Cutaneous hemangiomas, vascular anomaly complex Ignatio Pascual-Castrovieja
23. Sturge–Weber syndrome Anthony R. Riela and E. Steve Roach
24. Lesch–Nyhan syndrome William L. Nyhan
25. Multiple carboxylase deficiency Gerald M. So
26. Homocystinuria due to cystathionine-synthase (CBS) deficiency Raffaella de Franchis, Ennio del Giudice and Generoso Andria
27. Fucosidosis Michel Philippart
28. Menkes Kinky Hair syndrome/Menkes disease Zeynep Tümer and Nina Horn
29. Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy Pedro Mancias and Ian J. Butler
30. Cerebrotendinous xanthomatosis Aad Verrips, Johannes R. M. Cruysberg and Ron A. Wevers
31. Adrenoleukodystrophy Hugo W. Moser
32. Peroximal disorders Jeffrey Kane and E. Steve Roach
33. Familial dysautonomia Felicia B. Axelrod
34. Fabry disease E. Steve Roach
35. Giant axonal neuropathy Robert Chudnow
36. Chediak–Higashi syndrome Roula A. Farah and Zora R. Rogers
37. Encephalocraniocutaneous lipomatosis Marvin A. Fishman
38. Cerebello–Trigemino–Dermal dysplasia María Verónica Muñoz Rojas, Antônio Carlos dos Santos and João Monteiro de Pina Neto
39. Coffin–Siris syndrome Jean-Pierre Fryns
40. Lipoid proteinosis Donna E. Newsome
41. Macrodactyl-nerve fibrolipoma E. Steve Roach
Index.