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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.
For practical purposes, the terms "phakomatoses" and "neurocutaneous disorders" can be considered synonymous.
As a group, they are characterized by widespread abnormalities often with characteristic appearances.
Most commonly seen:
- tuberous sclerosis (Bourneville-Pringle disease)
- Sturge-Weber syndrome (encephalotrigeminal angiomatosis)
- von Hippel-Lindau disease (retinocerebellar angiomatosis | mnemonic)
- ataxia telangiectasia
- incontinentia pigmenti (Bloch-Sulzberger syndrome)
- basal cell nevus syndrome (Gorlin-Goltz syndrome)
- Wyburn-Mason syndrome (Bonnet-Dechaume-Blanc syndrome)
- encephalocraniocutaneous lipomatosis
- hypomelanosis of Ito
- Nijmegen breakage syndrome
- epidermal nevus syndrome
- neurocutaneous melanosis
- progressive facial hemiatrophy (Parry-Romberg syndrome)
- PHACE syndrome
- Cowden disease/COLD syndrome
- Gomez-Lopez-Hernandez syndrome
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- 2. Shin JH, Lee HK, Khang SK et-al. Neuronal tumors of the central nervous system: radiologic findings and pathologic correlation. Radiographics. 22 (5): 1177-89. Radiographics (full text) - Pubmed citation