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遗传性少毛症(玛丽 - 昂纳型)和青少年黄斑变性(斯特格特黄斑病变)。

Hereditary hypotrichosis (Marie-Unna type) and juvenile macular degeneration (Stargardt's maculopathy).

作者信息

Marren P, Wilson C, Dawber R P, Walshe M M

机构信息

Department of Dermatology, Stoke Mandeville Hospital, Aylesbury, UK.

出版信息

Clin Exp Dermatol. 1992 May;17(3):189-91. doi: 10.1111/j.1365-2230.1992.tb00203.x.

Abstract

Hypotrichosis of the Marie-Unna variety is a distinctive syndrome eponymously named following a publication in 1925 describing a family in which 27 individuals in seven generations were affected by a previously unreported type of hypotrichosis. Its inheritance is determined by an autosomal dominant gene and it usually occurs as an isolated abnormality. Hereditary macular degeneration (Stargardt's maculopathy) is also well recognized and has been reported in one family in association with alopecia areata but never in association with Marie-Unna hypotrichosis. Inheritance of Stargardt's maculopathy is autosomal recessive. Our patient demonstrates the co-existence of these two uncommon genetic disorders and it would appear that both defects have been independently inherited.

摘要

Marie-Unna型少毛症是一种独特的综合征,1925年一篇关于一个家族的报道对其进行了命名,该家族七代中的27人患有一种此前未报道过的少毛症类型。其遗传由常染色体显性基因决定,通常表现为孤立性异常。遗传性黄斑变性(Stargardt病)也广为人知,曾有一个家族报道其与斑秃相关,但从未与Marie-Unna型少毛症相关。Stargardt病的遗传是常染色体隐性的。我们的患者表现出这两种罕见遗传病的共存,似乎两种缺陷都是独立遗传的。

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