Integrated percutaneous sclerotherapy and surgical intervention for giant cutaneomucosal venous malformation from TIE2 mutation:A case report  

作　　者：Song Wang Renrong Lv Guangqi Xu Ran Huo 

机构地区：[1]Plastic Surgery Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100144,China [2]Department of Burn and Plastic Surgery,Shandong Provincial Hospital Affiliated to Shandong First Medical University,Jinan 250021,Shandong,China

出　　处：《Chinese Journal of Plastic and Reconstructive Surgery》2023年第3期126-129,共4页

基　　金：supported by the National Natural Science Foundation of China(grant no.8187080758).

摘　　要：Cutaneomucosal venous malformations(VMCMs)can manifest as sporadic or familial forms,following an autosomal dominant inheritance pattern.This report highlights the case of a 5-year-old girl presenting with a substantial congenital VMCM attributed to a TIE2 mutation,who underwent percutaneous sclerotherapy followed by surgery.The clinical,three-dimensional computed tomographic angiography(3D-CTA),as well as pathological and genetic findings concerning a patient with an extensive VMCM in the left pro-axillary region,are elucidated.The genetic analysis in this patient verified a missense mutation(c.2545T>C)in TIE2,confirming familial VMCMs.The combined strategy integrating percutaneous sclerotherapy and surgical excision is the most efficacious approach for managing large VMCMs and can successfully attain therapeutic goals.

关 键 词：Cutaneomucosal venous malformations TIE2 mutation Percutaneous sclerotherapy 3D-CTA 

分 类 号：R622[医药卫生—整形外科]