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Classification & external resources
ICD-10 Q85.
ICD-9 759.5-759.6
DiseasesDB 31496
MeSH D020752

Phakomatoses (or "neurocutaneous syndromes") are disorders of central nervous system that additionally result in lesions on the skin and the retina. These tissues have a common ectodermal origin.

The term, which means "spot", was introduced by Jan van der Hoeve in the 1920s, before the distinct genetic basis of each of these diseases was understood.[1]

Examples of phakomatoses


  1. ^ Enersen, Ole Daniel. Jan van der Hoeve. Who Named It?. Retrieved on 2007-07-13.
  • 1147863071 at GPnotebook
  • vi_1/p/PHAKOMATOSIS article at GE's Medcyclopaedia
  • KidsHealth
  • OSU
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Phakomatoses". A list of authors is available in Wikipedia.
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