This book Neurocutaneous Disorders provides a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognized phakomatoses, making it the most comprehensive reference work available on the subject.

Aimed primarily at clinicians and graduate researchers, this essential text bridges the gap between clinical recognition and the new molecular medicine. The problematic diagnosis of these conditions makes this comprehensive coverage essential reference material for clinicians.

Contents

1. Embryology of neurocutaneous syndromes
2. Vascular birthmarks of infancy: PHACE(S) association (Pascual-Castroviejo type II syndrome) and Cobb syndrome
3. Neurofibromatosis type 1 & related disorders
4. Neurofibromatosis type 2 and related disorders
5. The tuberous sclerosis complex
6. von Hippel-Lindau disease
7. Klippel–Tranaunay, Parkes Weber and Sturge–Weber syndromes (including Kasabach–Merrit phenomena)
8. Klippel–Trenaunay syndrome
9. Parkes Weber syndrome
10. Sturge-Weber syndrome
11. Osler-Weber-Rendu syndrome (Hereditary hemorrhagic telangiectasia)
12. Macrocephaly-cutis marmorata telangiectatica congenita (macrocephaly-capillary malformation)
13. Blue Rubber Bleb nevus syndrome (BRBNS)
14. Wyburn-Mason syndrome
15. Maffucci syndrome
16. Hypomelanosis of Ito and related disorders (Pigmentary mosaicism)
17. Phylloid hypomelanosis
18. Incontinentia pigmenti
19. Silver hair syndromes: Chediak-Higashi syndrome (CHS) and Griscelli syndromes (GS)
20. Leopard syndrome
21. Nevus of Ota
22. Phacomatosis pigmentokeratotica
23. Phakomatosis pigmentovascularis
24. Speckled lentiginous nevus syndrome
25. Cutis tricolor (Ruggieri–Happle syndrome)
26. Neurocutaneous melanosis
27. Genetics of PTEN hamartoma tumor syndrome (PHTS)
28. Lhermitte–Duclos and Cowden disease complex
29. Bannayan-Riley-Ruvalcaba syndrome
30. Encephalocraniocutaneous lipomatosis (Haberland syndrome)
31. Proteus syndrome
32. Epidermal nevus syndromes
33. Schimmelpenning-Feuerstein-Mims syndrome (Nevus sebaceous syndrome)
34. Inflammatory linear verrucous epidermal nevus (ILVEN)
35. Nevus comedonicus syndrome
36. Becker’s nevus syndrome (Pigmentary hairy epidermal nevus)
37. Child Syndrome
38. Chondrodysplasia punctata (CDP) Conradi-Hunermann-happle type (CDPX2)
39. Sjögren–Larsson syndrome
40. Kid syndrome (Keratitis-Ichthyosis-deafness)
41. Papillon–Lefèvre syndrome (PLS)
42. Richner–Hanhart syndrome (Tyrosine transaminase deficiency)
43. Darier’s disease
44. Dyskeratosis congenita
45. Nevoid basal cell carcinoma (Gorlin) syndrome
46. Multiple endocrine neoplasia type 2B
47. Turcot syndrome
48. Degos’ disease (Malignant atrophic papulosis)
49. Ataxia-telangiectasia
50. Nijmegen breakage syndrome
51. Xeroderma pigmentosum
52. Cockayne syndrome
53. Trichothiodystrophy
54. Progeria and progeroid syndromes (Premature ageing disorders)
55. Focal dermal hypoplasia syndrome (Goltz syndrome)
56. Ehlers–Danlos syndromes
57. Lipoid proteinosis
58. Progressive facial hemiatrophy (Parry-Romberg syndrome)
59. Linear scleroderma (morphoea) “en coup de sabre”
60. Unilateral somatic and intracranial hypoplasia
61. Oculocerebrocutaneous syndrome (Delleman syndrome)
62. Cerebello-trigeminal dermal dysplasia (Gomez-Lopez-Hernandez syndrome)
63. Macrodactyly-Lipofibromatous hamartoma of nerves
64. CHIME syndrome (Zunich syndrome)
65. Hypohidrotic ectodermal dysplasia (HED)
66. Costello syndrome and the RAS-extracellular signal regulated kinase (ERK) pathway
67. Anderson-Fabry disease
68. Cerebrotendinous xanthomatosis
69. Giant axonal neuropathy
70. Lesch–Nyhan syndrome
71. The skin as a clue for the diagnosis of inherited metabolic disorders
72. Skin involvement as a clinical marker of neuromuscular disorders

Index

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