Phakomatoses

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.

Pathology

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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