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成功治疗一名马富奇综合征患者的梭形细胞血管瘤,并复习文献。

Successful treatment of spindle cell hemangiomas in a patient with Maffucci syndrome and review of literatures.

机构信息

Department of Dermatology, Division of Pediatric Dermatology, Stanford University School of Medicine, Stanford, California.

Department of Pediatrics, Division of Ambulatory and Adolescent Medicine, Section of Dermatology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

出版信息

Dermatol Ther. 2019 May;32(3):e12919. doi: 10.1111/dth.12919. Epub 2019 Apr 29.

Abstract

Maffucci syndrome is a rare genetic disease due to somatic mutation of IDH1 gene. Currently there is no medical treatment available for spindle cell hemangioma associated with this disorder. Here we report successful management of these hemangiomas using sirolimus in combination with surgery.

摘要

马富奇综合征是一种罕见的遗传性疾病,由 IDH1 基因突变引起。目前,针对与这种疾病相关的梭形细胞血管瘤,尚无有效的医学治疗方法。在这里,我们报告了使用西罗莫司联合手术成功治疗这些血管瘤的病例。

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