Definition of "Phakomatosis"

Last modified: 20 days

Phakomatosis (from Greek "phakos" meaning "spot, lens", aka neuro-oculo-cutaneous syndromes, neurocutaneous disorders, mother's spot) are multisystem disorders that have characteristic CNS, ocular, and cutaneous lesions of variable severity. The skin and the brain have a common ectodermal origin, so there are many genetic and acquired diseases that affect both tissues. However, in some conditions, e.g. von Hippel-Lindau disease, ectodermal presentation is minimal.

  • Neurofibromatosis
  • Tuberous sclerosis
  • Ataxia telangiectasia
  • Sturge-Weber syndrome
  • von Hippel-Lindau disease
  • Incontinentia pigmenti
  • Nevoid basal cell carcinoma syndrome
  • Wyburn-Mason syndrome (aka Bonnet–Dechaume–Blanc syndrome)

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Definition of Phakomatosis | Autoprac

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