毛细血管畸形-动静脉畸形综合征2的临床诊断及遗传学依据

Clinical diagnosis and genetic basis of capillary malformation-arteriovenous malformation 2

目的探讨毛细血管畸形-动静脉畸形综合征2(CM-AVM2)的诊断方法及遗传学依据。方法回顾并收集2019年1月至2020年1月上海交通大学医学院附属第九人民医院整复外科收治的CM-AVM2病例临床资料。通过PubMed数据库、中国知网及SinoMed检索有关CM-AVM的文献,并结合收集的病例资料分析CM-AVM2的临床表现及诊断方法。结果共收集2例CM-AVM2,其具有全身非典型红斑,同时具有EPHB4基因突变,均未合并有高流速脉管畸形。文献检索并筛选共获得3篇有关于CM-AVM2的文献。结合文献及2例病例资料,得出CM-AVM2常表现为与CM-AVM相似的非典型红斑,可合并有高流速脉管畸形,基因检测筛查是否具有EPH受体B4(EPHB4)基因突变可明确诊断。结论临床表现、家族史及基因检测为CM-AVM2的有效诊断方法。EPHB4基因突变导致血管异常出芽新生可能是CM-AVM2的发生机制。

Objective To investigate the diagnostic method and genetic basis of capillary malformation-arteriovenous malformation 2(CM-AVM2).Methods A retrospective analysis of clinical data of CM-AVM2.The patients who came to the Department of Plastic and Reconstructive Surgery of Shanghai Ninth People’s Hospital,Shanghai Jiao Tong University School of Medicine from January 2019 to January 2020.Literature related to CM-AVM was searched through PubMed database,CNKI,and SinoMed,and the clinical manifestations and diagnostic methods of CM-AVM2 were analyzed based on the collected case data and literature.Results 2 patients with systemic sporadic atypical erythema also with the mutation of EPHB4,and none of them were associated with high-flow vascular malformation.A total of 3 literatures on CM-AVM2 were retrieved and screened.Combined with the literature and 2 cases,it is concluded that CM-AVM2 is often manifested as atypical erythema similar to CM-AVM,which can be combined with high-flow vascular malformation,and the genetic test of EPHB4 gene mutation can be clearly diagnosed of CM-AVM2.Conclusions Clinical manifestations,family history and genetic test are effective diagnostic method for CM-AVM.Moreover,the abnormal sprouting angiogenesis cause by EPHB4 mutation may be the mechanism of CM-AVM2.