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获得性弹性假黄瘤

Acquired pseudoxanthoma elasticum

ORPHA:228247疾病

定义 英文原文(暂无中文)

A rare acquired dermis elastic tissue disorder characterized by clinical and histopathologic evidence of pseudoxanthoma elasticum in the absence of a family history or specific mutation. Patients present with predominantly cutaneous manifestations consisting of yellowish papules which coalesce into large plaques and are most commonly localized on the neck, axillae, groin, and flexural surfaces. Skin biopsy shows accumulation of clumped, calcified elastic fibers in the mid-dermis. Reported underlying factors include previous liver transplantation, exposure to penicillamine, or concomitant beta-thalassemia.

别名

获得性Gronblad-Strandberg-Touraine综合征

基本事实

遗传方式
不适用
发病年龄
成年期
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)