Phakomatoses

Phakomatoses are a group of neurocutaneous disorders characterized by 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. Examples of phakomatoses are listed here:

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Article information

rID: 8212
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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