Phakomatoses (or neuro-oculo-cutaneous syndromes) are multisystem disorders that have characteristic central nervous system, ocular and cutaneous lesions of variable severity. [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", suffix-(o)ma (-ωμα) and the suffix -osis, also called "Mother's spot " or " Birth mark "was introduced by Jan van der Hoeve in 1920, before the distinct genetic basis of each of these diseases was understood. [3 ]
Examples of phakomatoses [ edit ]
Phakomatoses are inconsistently defined, and there is not a consensus about what conditions are included in this category.
Conditions included are:
References [ edit ]
Arthur Rook; Tony Burns (FRCP.) (2004). Rook's textbook of dermatology. Wiley-Blackwell. pp. 5–.
ISBN 978-0-632-06429-8. . Retrieved 27 October 2010. vi_1/p/PHAKOMATOSIS article at GE's Medcyclopaedia
Enersen, Ole Daniel. "Jan van der Hoeve". Who Named It?.
. Retrieved 2007-07-13. Myron Yanoff; Jay S. Duker (2009). Ophthalmology. Elsevier Health Sciences. pp. 937–.
ISBN 978-0-323-04332-8. . Retrieved 27 October 2010. Sandra Bellezza, MD: Neurological Manifestations of Phakomatos
External links [ edit ]