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.
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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 Tumer 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 Maria Veronica Munoz Rojas, Antonio Carlos dos Santos and Joao 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.
