伴有隐性遗传的单纯性大疱性表皮松解症合并肌营养不良症
Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance.
作者信息
Niemi K M, Sommer H, Kero M, Kanerva L, Haltia M
机构信息
Department of Dermatology, University of Helsinki, Finland.
出版信息
Arch Dermatol. 1988 Apr;124(4):551-4.
PMID:3355199
Abstract
Epidermolysis bullosa with unusually severe clinical features was associated with progressive muscular dystrophy in two siblings. Light and electron microscopic examination revealed an intraepidermal cleavage confirming that this mechanobullous disease belonged to the epidermolysis bullosa simplex group. This may represent a new disease entity inherited in an autosomal-recessive fashion.
摘要
两名患有具有异常严重临床特征的大疱性表皮松解症的同胞兄妹，同时患有进行性肌营养不良症。光镜和电镜检查显示表皮内裂隙，证实这种机械性大疱病属于单纯型大疱性表皮松解症组。这可能代表一种以常染色体隐性方式遗传的新疾病实体。
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