Neurocutaneous Disorders

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.