Department of Dermatology, University of Minnesota, Minneapolis, Minnesota, USA.
Department of Pediatric Radiology, University of Minnesota, Minneapolis, Minnesota, USA.
Pediatr Dermatol. 2022 Mar;39(2):316-319. doi: 10.1111/pde.14912. Epub 2022 Jan 10.
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.
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。
