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角层分离性冬季红斑

Keratolytic winter erythema

ORPHA:50943疾病

定义 英文原文(暂无中文)

Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.

别名

冬令红斑角质松解

基本事实

遗传方式
常染色体显性
发病年龄
青少年期、成年期、儿童期、婴儿期、新生儿期

相关基因 1

基因名称关联类型
CTSBcathepsin BRole in the phenotype of

临床表型 3

极常见 99–80%1

  • 红斑 HP:0010783

偶见 29–5%2

  • 多汗症 HP:0000975
  • 脓疱 HP:0200039

外部标识与链接

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本页数据来源

  • 疾病定义、同义词、基因、表型、流行病学:Orphanet(CC BY 4.0)
  • 中文病名:Orphanet 中文包,冻结于 2020-06-01
  • 表型中文标签:HPO 简体中文翻译(CHPO 上游成果)