点状雀斑样色素沉着性肢端角化症
Punctate acrokeratoderma freckle-like pigmentation
ORPHA:99710疾病
定义 英文原文(暂无中文)
A rare epidermal disease characterized by the association of punctate acrokeratoderma with a pigmentary disorder. Patients present skin-colored keratotic papules on the hands and feet and pronounced hyperkeratosis of the palms and soles. Freckle-like pigmentation on the dorsal surfaces of the hands and feet is also reported. Histological examination reveals no fragmentation of dermal elastic tissue. There have been no further descriptions in the literature since 1993.
基本事实
- 发病年龄
- 儿童期
- 患病率
- <1 / 1 000 000
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)