Phakomatoses

Last revised by Dr Daniel J Bell on 14 Jun 2021

The 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.

Terminology

For practical purposes, the terms "phakomatoses" and "neurocutaneous disorders" can be considered synonymous.

Pathology

As a group, they are characterized by widespread abnormalities often with characteristic appearances. 

Most commonly seen:

Less common:

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Cases and figures

  • Case 1: Sturge-Weber syndrome
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