Phakomatoses and Hamartoneoplastic Syndromes
Handbook from C.H.I.P.S.

Neurocutaneous Disorders
Phakamatoses and Hamartoneoplastic Syndromes
edited by M. Ruggieri

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.


  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


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Neurocutaneous Disorders
Phakamatoses and Hamartoneoplastic Syndromes
edited by M. Ruggieri

2008 • 1,070 pages • $398.00 + shipping
Texas residents please add 6.75 % sales tax

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