Clinical diagnosis and genetic basis of capillary malformation-arteriovenous malformation 2
10.3760/cma.j.cn114453-20200315-00149
- VernacularTitle: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
- Author:
Yuanbo LI
1
;
Ren CAI
;
Chen HUA
;
Yunbo JIN
;
Xiaoxi LIN
Author Information
1. 上海交通大学医学院附属第九人民医院整复外科 200011
- Keywords:
Capillary malformation-arteriovenous malformation;
RASA1;
EPHB4
- From:
Chinese Journal of Plastic Surgery
2020;36(5):494-498
- CountryChina
- Language:Chinese
-
Abstract:
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.
