Suppr超能文献

遗传性平滑肌瘤病和肾细胞癌综合征(HLRCC):富马酸水合酶基因突变个体的临床特征。

The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation.

作者信息

Varol Alexandra, Stapleton Karen, Roscioli Tony

机构信息

Department of Dermatology, Liverpool Hospital, New South Wales, Australia.

出版信息

Australas J Dermatol. 2006 Nov;47(4):274-6. doi: 10.1111/j.1440-0960.2006.00294.x.

Abstract

A 55-year-old woman presented with multiple cutaneous leiomyomas and multiple uterine leiomyomas (fibroids). The clinical diagnosis of the autosomal dominant hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome was confirmed by identification of a fumarate hydratase gene mutation. This case highlights the need to consider the possibility of renal and uterine cancer in members of cutaneous leiomyomatosis families.

摘要

一名55岁女性患有多发性皮肤平滑肌瘤和多发性子宫平滑肌瘤(纤维瘤)。通过鉴定延胡索酸水合酶基因突变,确诊为常染色体显性遗传性平滑肌瘤病和肾细胞癌(HLRCC)综合征。该病例强调了皮肤平滑肌瘤病家族成员需要考虑患肾癌和子宫癌的可能性。

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