Neurocutaneous Disorders
The neurocutaneous disorders comprise a group of neurological disorders featuring skin lesions and often eye lesions, central and peripheral nervous system tumors, brain malformations, mental retardation, and psychiatric syndromes or seizures. This book provides an authoritative, illustrated review of the recognition, investigation, treatment and genetics of these disorders. It will be essential reading for neurologists as well as dermatologists, geneticists and pediatricians.
- A uniquely authoritative overview of the clinical features, natural history and genetic and molecular mechanisms of the neurocutaneous syndromes
- Highly illustrated throughout
- Essential reading for both neurologists and dermatologists
Reviews & endorsements
"...comprehensive...The unique aspect of this book lies in its emphasis on the biochemical and genetic basis of these diseases. It provides a useful source of reference for the general characteristics of these disorders as well as their molecular characteristics." Marilyn Ray, Ochsner Clinic Foundation, American Academy of Neurology
"The unique aspect of this book lies in its emphasis on the biochemical and genetic basis of these diseases. It provides a useful source of reference for the general characteristics of these disorders as well as their molecular characteristics." Doody's Review Service
"The reader is most definitely in for a treat...provides the essential clinical and genetic data which points the way to the future." From the foreword by Roger N. Rosenberg
"Who should buy this book? Certainly all those working in the field whatever their speciality. Given the frequency of this group of conditions many paediatric neurologists and dermatologists will also want their own copy...a 'must' for the liberaries of all departments of adult and paediatric neurology, clinical genetics, and dermatology." Journal of Neurology
Product details
February 2004Hardback
9780521781534
356 pages
225 × 284 × 28 mm
1.576kg
123 b/w illus. 70 colour illus.
Out of stock in print form with no current plan to reprint
Table of Contents
- 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 MarÃa 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.