- Phakomatosis
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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]
Examples of phakomatoses
Phakomatoses are inconsistently defined, and there is not a consensus about what conditions are included in this category. [4]
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.
^ 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
Phakomatosis (Q85, 759.5–759.6) Neurofibromatosis Angiomatosis Hamartoma Tuberous sclerosis · Hypothalamic hamartoma (Pallister-Hall syndrome) · Multiple hamartoma syndrome (Proteus syndrome, Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, Lhermitte-Duclos disease)Other Abdallat Davis Farrage syndrome · Ataxia telangiectasia · Incontinentia pigmenti · Peutz–Jeghers syndromeCategories:- Disease stubs
- Neurocutaneous conditions
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