表皮松解性角化过度
基因病名称(英)
Epidermolytic hyperkeratosis
别名(英)
BCIE,BIE,Bullous congenital ichthyosiform erythroderma,Bullous erythroderma ichthyosiformis congenita of Brocq,Bullous ichthyosiform erythroderma,Epidermolytic hyperkeratosis late-onset
别名
BCIE,BIE,大疱性先天性鱼鳞状红皮病,Brocq的先天性鱼鳞状大疱性红皮病,大疱性鱼鳞状红皮病,迟发性表皮松解性角化过度
统计
reviewed:2; annotated:0
交叉引用
113800,C0079153,C1862005,D017488
描述(英)
An autosomal dominant skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop.
描述
一种常染色体显性遗传的皮肤病，其特征是出生时出现广泛的水疱和鱼鳞病性红皮病，并持续到成年。组织学上，表皮下棘层有弥漫性表皮溶解变性。出生后几周内，红皮病和水疱形成减少，角化过度发展。