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Phakomatoses

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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The phakomatoses are inherited disorders in which there are benign cutaneous lesions associated with neurological disorders. The skin and central nervous system both arise embryologically from the ectoderm.

Common forms are:

  • neurofibromatosis
  • tuberous sclerosis

Rarer phakomatoses are:

  • Sturge-Weber syndrome
  • Von Hippel-Lindau syndrome
  • ataxia telangectasia
  • incontinentia pigmenti

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