Phakomatoses

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MeshID = 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. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal. [Medcyclopaedia|vi_1/p/PHAKOMATOSIS]

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. [cite web
first = Ole Daniel
last = Enersen
url = http://www.whonamedit.com/doctor.cfm/792.html
title = Jan van der Hoeve
publisher = Who Named It?
accessdate = 2007-07-13]

Examples of phakomatoses

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

References

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* [http://kidshealth.org/parent/system/ill/neurocutaneous.html KidsHealth]
* [http://medicalcenter.osu.edu/patientcare/healthinformation/diseasesandconditions/nervous/ns/ OSU]