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

Abstract

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.

Keywords

• Cutaneomucosal venous malformations
• TIE2 mutation
• Percutaneous sclerotherapy
• 3D-CTA