Phakomatoses

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Phakomatoses Classification and 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]

[edit] Examples of phakomatoses

• Neurofibromatosis
• Tuberous sclerosis
• Ataxia telangiectasia
• Sturge-Weber syndrome
• von Hippel-Lindau disease
• Incontinentia pigmenti

[edit] References

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

v • d • e Phakomatoses (Q85, 759.5-759.6) Neurofibromatosis type I - type II Other Abdallat Davis Farrage syndrome - Ataxia telangiectasia - Incontinentia pigmenti - Peutz-Jeghers syndrome - Sturge-Weber syndrome - Tuberous sclerosis - Von Hippel-Lindau disease