| Phakomatosis | |
|---|---|
| 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 eye.[1]
These tissues have a common ectodermal origin. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal.[2]
The term, from the Greek φακός, phakos, "spot, lens" and the suffix -osis, was introduced by Jan van der Hoeve in 1920, before the distinct genetic basis of each of these diseases was understood.[3]
Phakomatoses are inconsistently defined, and there is not a consensus about what conditions are included in this category. [4]
Conditions included are:
^ Arthur Rook; Tony Burns (FRCP.) (2004). Rook's textbook of dermatology. Wiley-Blackwell. pp. 5–. ISBN 9780632064298. http://books.google.com/books?id=t2tERO4tAg8C&pg=SA5-PA69. Retrieved 27 October 2010. ^ 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. ^ Myron Yanoff; Jay S. Duker (2009). Ophthalmology. Elsevier Health Sciences. pp. 937–. ISBN 9780323043328. http://books.google.com/books?id=u43MTFr7-m8C&pg=PA937. Retrieved 27 October 2010. ^ Sandra Bellezza, MD: Neurological Manifestations of Phakomatos
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