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 substanti...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.展开更多
基金supported by the National Natural Science Foundation of China(grant no.8187080758).
文摘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.
