Phakomatosis

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.

These tissues have a common ectodermal origin. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal.

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.

Examples of phakomatoses

Phakomatoses are inconsistently defined, and there is not a consensus about what conditions are included in this category.

Conditions included are:

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

References

^ 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

External links

• 1147863071 at GPnotebook
• KidsHealth
• OSU