Neurocutaneous Disorders

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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.
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Editorial Reviews

Doody's Review Service
Reviewer: Marilyn Ray, M.D.(Ochsner Clinic Foundation)
Description: This is a comprehensive review of neurocutaneous disease written by well qualified authors, several of whom are known experts in their particular field (i.e., Robert Gorlin for the basal cell nevus syndrome). In addition to descriptions of the disorders, the book includes a chapter on genetics and one on recognition of these conditions.
Purpose: The book is written for neurologists, dermatologists, geneticists, and pediatricians to review and in particular to update the biochemical and genetic basis of these diseases. It covers all of the neurocutaneous disorders and thus meets the authors' objective of providing readily accessible source of information about the clinical features and prognosis of these conditions together with their genetic basis.
Audience: Drs. Roach and Miller are neurologists who have taken an interest in emphasizing the cellular and biochemical basis of diseases. They have collected contributions by leaders in molecular genetics to achieve this goal. This book will be useful not only to practicing physicians but also to residents and students of genetics in general.
Features: This book covers the classic neurological syndromes which have cutaneous involvement. The approach is well organized, easily useable, and unique in its emphasis on the molecular basis of the disorders. The book includes an interesting introduction which uses a table dividing the abnormalities into types (i.e., skin, hair, ophthalmic, etc). It is curious, however, that in table 1.1 on skin lesions there is a designation of "rash like" lesions which is not commonly used terminology. Perhaps this section could have been omitted. Although the authors attempt to demonstrate cutaneous findings through the use of clinical photos, many are in black and white, limiting their usefulness. In addition, the figures used in the chapter on clinical recognition do not demonstrate the lesions as well the photos used in the individual chapters and could have been omitted.
Assessment: 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. Although I am not aware of any comparable book on this topic, aspects of this information can be found in general dermatology textbooks.

3 Stars from Doody
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Product Details

  • ISBN-13: 9780521781534
  • Publisher: Cambridge University Press
  • Publication date: 1/28/2004
  • Pages: 356
  • Product dimensions: 8.62 (w) x 10.87 (h) x 1.10 (d)

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 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.

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