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phakomatosis : ウィキペディア英語版
phakomatosis

Phakomatoses (or neuro-oculo-cutaneous syndromes, neurocutaneous disorders) are multisystem disorders that have characteristic central nervous system, ocular, and cutaneous lesions of variable severity. The skin and the brain have a common ectodermal origin, so there are many genetic and acquired diseases that affect both tissues. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal.
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.
==Examples of phakomatoses==

Phakomatoses are inconsistently defined, and there is a lack of 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
* Wyburn-Mason syndrome (Bonnet–Dechaume–Blanc syndrome)

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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