外用西罗莫司治疗结节性硬化症面部血管纤维瘤研究进展

doi:10.3969/j.issn.1006-7795.2017.05.005

摘要/Abstract

摘要： 结节性硬化症是一种常染色体显性遗传的神经皮肤综合征，引起多器官错构瘤。60%的病人伴面部血管纤维瘤，严重时可致毁容。口服哺乳动物西罗莫司靶蛋白（mammalian target of rapamycin，mTOR）抑制剂如西罗莫司可治疗结节性硬化相关症状，提出外用西罗莫司治疗面部血管纤维瘤效果较好，本文就西罗莫司的作用机制、临床治疗效果、不良反应做一综述。

关键词: 结节性硬化症, 面部血管纤维瘤, 西罗莫司

Abstract: Tuberous sclerosis complex (TSC) is a kind of autosomal dominant neurocutaneous syndrome which causes hamartomatous growths in multiple organs. Facial angiofibromas occur in up to 60% of patients and can cause severe facial disfigurement. Mammalian target of rapamycin (mTOR) inhibitors such as rapamycin have been used to treat symptoms associated with the TSC. Recently, topical rapamycin has been proposed as an effective option to treat angiofibromas. In this paper, the mechanism, clinical applications, therapeutic effect and adverse reactions of rapamycin are reviewed.

Key words: tuberous sclerosis complex, facial angiofibromas, rapamycin

中图分类号:

R593.27

王杰颖, 朱威, 连石. 外用西罗莫司治疗结节性硬化症面部血管纤维瘤研究进展[J]. 首都医科大学学报, 2017, 38(5): 654-657.

Wang Jieying, Zhu Wei, Lian Shi. Topical rapamycin for the treatment of facial angiofibromas in tuberous sclerosis complex[J]. Journal of Capital Medical University, 2017, 38(5): 654-657.

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