Gourier G, Audebert-Bellanger S, Vourc'h P, Fraitag S, L'Hérondelle K, Labouche A, Misery L, Abasq-Thomas C
Department of dermatology and venereology, CHU de Brest, 2, avenue Foch, 29609 Brest cedex, France.
Department of paediatrics and medical genetics, CHU de Brest, 2, avenue Foch, 29609 Brest cedex, France.
Ann Dermatol Venereol. 2018 Aug-Sep;145(8-9):486-491. doi: 10.1016/j.annder.2018.04.010. Epub 2018 Jul 26.
Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is an autosomal dominant disorder first described in 2003.
An 8-year-old girl was referred for the progressive appearance of multiple capillary malformations in childhood, evocative of CM-AVM syndrome. Molecular analysis of the RASA1 gene revealed a mutation but further examinations did not show arteriovenous malformation.
CM-AVM syndrome is an autosomal dominant disease caused by RASA1 gene mutations. More than 100 mutations have been identified to date. The EPHB4 gene may also be involved. Capillary malformations with particular characteristics are described. High-flow vascular malformations are associated in 18.5% of cases, with 7.1% being intracerebral.
CM-AVM syndrome is a recent diagnostic entity. Diagnosis should be considered in the presence of multifocal capillary malformations. This diagnosis may lead to the detection of high-flow arteriovenous malformation and raises the question of specific management for these patients.
毛细血管畸形 - 动静脉畸形综合征（CM - AVM）是一种常染色体显性疾病，于2003年首次被描述。
一名8岁女孩因童年期逐渐出现多处毛细血管畸形而前来就诊，疑似CM - AVM综合征。对RASA1基因进行分子分析发现了一个突变，但进一步检查未显示动静脉畸形。
CM - AVM综合征是一种由RASA1基因突变引起的常染色体显性疾病。迄今为止已鉴定出100多种突变。EPHB4基因也可能参与其中。文中描述了具有特定特征的毛细血管畸形。18.5%的病例伴有高流量血管畸形，其中7.1%为脑内病变。
CM - AVM综合征是一个新的诊断实体。存在多灶性毛细血管畸形时应考虑该诊断。这一诊断可能会发现高流量动静脉畸形，并引发对这些患者进行特殊管理的问题。
