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Neurocutaneous syndromes

= Phacomatoses

Disorders characterised by harmatomas located throughout the body, often involving both skin and nervous system.

Neurofibromatosis

Type 1

Autosomal dominant (chromosome 17)
  1. Café-au-lait spots
  2. Cutaneous neurofibromas (may be disfiguring)
  3. Plexiform neurofibromas
  4. Lisch nodules
  5. Optic gliomas
  6. Kyphoscoliosis

Type 2

Autosomal dominant (chromosome 22)
  1. CN VIII schwannoma
  2. Multiple meningiomas

Tuberous sclerosis

Autosomal dominant (chromosome 9 or 16).
  1. Ash-leaf macules
  2. Shagreen patches
  3. Angiofibromas (adenoma sebaceum)
  4. Subungual fibromas
  5. Epilepsy (cortical tubers)
  6. Mental retardation, autism
  7. Renal angiomyolipomas
  8. Retinal phakomas, specks

von Hippel-Lindau disease

Autosomal dominant (chromosome 3)
  1. Cerebellar haemangioblastomas
  2. Retinal angiomas
  3. Phaeocromocytomas
  4. Pancreatic cysts
  5. Liver cysts
  6. Renal cysts and cell carcinomas
  7. Polycythaemia in 10% (renal tumour produces erythropoietin)