Dr Henry Knipe and Assoc Prof Frank Gaillard et al.

Phakomatoses are a group of neurocutaneous disorders characterized by the involvement of structures that arise from the embryonic ectoderm (thus central nervous system, skin, and eyes). Other organs may also be involved.


As a group, they are characterized by widespread abnormalities often with characteristic appearances. There are around 30 phakomatoses of which the most important ones are listed here:

Article information

rID: 8212
Section: Gamuts, Syndromes
Tag: refs, cases
Synonyms or Alternate Spellings:
  • Phakomatosis
  • Neurocutaneous syndromes
  • Neuro-cutaneous syndromes

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Cases and figures

  • Case 1: Sturge-Weber syndrome
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