| 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. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal.[1]
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.[2]
Examples of phakomatoses
- Neurofibromatosis
- Tuberous sclerosis
- Ataxia telangiectasia
- Sturge-Weber syndrome
- von Hippel-Lindau disease
- Incontinentia pigmenti
- Nevoid basal cell carcinoma syndrome
References
- ^ vi_1/p/PHAKOMATOSIS article at GE's Medcyclopaedia
- ^ Enersen, Ole Daniel. "Jan van der Hoeve". Who Named It?. http://www.whonamedit.com/doctor.cfm/792.html. Retrieved 2007-07-13.
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