动静脉畸形
医学
曲美替尼
血管畸形
内科学
放射科
激酶
MAPK/ERK通路
生物
遗传学
作者
Cynthia Nicholson,Siobhan Flanagan,Michael Murati,Christina Boull,Erin McGough,Rebecca Ameduri,Brenda Weigel,Sheilagh Maguiness
摘要
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.
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