|
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）』 ■ウィキペディアで「Phakomatosis」の詳細全文を読む スポンサード リンク
|