血管角质瘤：法布瑞氏病的皮肤标志物。
Angiokeratoma: a cutaneous marker of Fabry's disease.
机构信息
Clinical Genetics Unit, Instituto da Criança, Hospital das Clínicas, FMUSP, São Paulo, Brazil.
出版信息
Clin Exp Dermatol. 2010 Jul;35(5):505-8. doi: 10.1111/j.1365-2230.2009.03721.x. Epub 2009 Oct 19.
Abstract
The initial symptoms of Fabry's disease (FD) may seem harmless and may delay its diagnosis. A survey and screening for FD were performed on men with biopsy-proven angiokeratoma and some of their relatives (n = 29). Three patients were identified. Dermatologists should be aware of this prominent early feature and investigate unexplained cutaneous vascular lesions to detect FD.
摘要
法布瑞氏病（FD）的初始症状可能看似无害，从而可能导致其诊断被延误。我们对 29 名经活检证实存在血管角皮瘤的男性及其部分亲属进行了 FD 调查和筛查。发现了 3 例患者。皮肤科医生应注意到这一突出的早期特征，并对不明原因的皮肤血管病变进行检查，以发现 FD。
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