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成功应用曲美替尼治疗毛细血管畸形-动静脉畸形综合征伴心脏合并症患者的动静脉畸形

Successful management of an arteriovenous malformation with trametinib in a patient with capillary-malformation arteriovenous malformation syndrome and cardiac compromise.

机构信息

Department of Dermatology, University of Minnesota, Minneapolis, Minnesota, USA.

Department of Pediatric Radiology, University of Minnesota, Minneapolis, Minnesota, USA.

出版信息

Pediatr Dermatol. 2022 Mar;39(2):316-319. doi: 10.1111/pde.14912. Epub 2022 Jan 10.

Abstract

Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is an autosomal dominant condition characterized by multifocal, noncontiguous pink patches on the skin that often have a surrounding pale halo. In some cases, an association with a fast flow, arteriovenous malformation (AVM) can be identified. Here, we describe a case report of a 16-year-old woman with CM-AVM syndrome and significant cardiac compromise successfully treated with trametinib, a mitogen-activated protein kinase (MEK) inhibitor.

摘要

毛细血管畸形-动静脉畸形(CM-AVM)综合征是一种常染色体显性疾病,其特征是皮肤出现多发性、非连续的粉红色斑块,通常伴有周围苍白晕。在某些情况下,可能会发现与快速流动的动静脉畸形(AVM)有关。在此,我们描述了一例 16 岁女性 CM-AVM 综合征合并严重心脏并发症的病例报告,该患者成功接受了丝裂原活化蛋白激酶(MEK)抑制剂曲美替尼治疗。

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