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一名足病科患者被诊断为遗传性出血性毛细血管扩张症的病例报告。

A Case Report of Hereditary Hemorrhagic Telangiectasia Diagnosed in a Podiatric Medical Patient.

作者信息

Amin Kunal, Mckay Douglas

出版信息

J Am Podiatr Med Assoc. 2017 Mar;107(2):155-157. doi: 10.7547/15-144.

Abstract

Hereditary hemorrhagic telangiectasia (HHT), which is also known as Osler-Weber-Rendu syndrome, is a group of related disorders characterized by the development of arteriovenous malformations. These malformations occur in almost all organs but predominantly in the skin, intestines, liver, lungs, and brain. This is a case report of a patient with cutaneous manifestations of HHT in the lower extremities as diagnosed by his podiatric physician. To our knowledge, the literature does not present any case reports in which cutaneous manifestations of the lower extremities followed by a further work-up allowed a diagnosis of HHT.

摘要

遗传性出血性毛细血管扩张症(HHT),也被称为奥斯勒-韦伯-伦杜综合征,是一组以动静脉畸形形成为特征的相关疾病。这些畸形几乎发生于所有器官,但主要出现在皮肤、肠道、肝脏、肺和大脑。本文报告了一例经足病医生诊断为患有下肢HHT皮肤表现的患者。据我们所知,文献中没有任何关于下肢皮肤表现随后经进一步检查确诊为HHT的病例报告。

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