Suppr超能文献

酶活性正常的患者身上的弥漫性躯体血管角质瘤

Angiokeratoma corporis diffusum in a patient with normal enzyme activities.

作者信息

Holmes R C, Fensom A H, McKee P, Cairns R J, Black M M

出版信息

J Am Acad Dermatol. 1984 Feb;10(2 Pt 2):384-7. doi: 10.1016/s0190-9622(84)80012-2.

Abstract

A 34-year-old man is described with angiokeratoma corporis diffusum. This eruption was once thought to be diagnostic of Anderson-Fabry disease; however, recent studies have shown that it may also occur in the enzyme disorders fucosidosis and sialidosis. In our patient with widespread angiokeratomas, the results of enzyme studies were normal, and there were no systemic problems or significant family history. Our case demonstrates that angiokeratoma corporis diffusum can occur in a benign form without systemic features.

摘要

一名34岁男性被诊断为弥漫性躯体血管角皮瘤。这种皮疹曾被认为是安德森-法布里病的诊断依据;然而,最近的研究表明,它也可能出现在岩藻糖苷贮积症和唾液酸贮积症等酶紊乱疾病中。在我们这位患有广泛血管角皮瘤的患者中,酶学研究结果正常,且没有全身性问题或明显的家族病史。我们的病例表明,弥漫性躯体血管角皮瘤可以以良性形式出现,而无全身特征。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验