Managing gastrointestinal involvement in cutaneomucosal venous malformation: safety and efficacy of endoscopic sclerotherapy

TL;DR

This paper shows that a skin-related condition can also affect the gut and that a specific treatment is safe and effective for managing it.

Contribution

The study demonstrates that VMCM can involve the GI tract and that endoscopic sclerotherapy is a viable treatment.

Findings

VMCM can extend to the gastrointestinal system, challenging previous diagnostic assumptions.

Endoscopic sclerotherapy is safe and effective for treating GI venous malformations in VMCM.

Systemic evaluation and genetic testing are recommended for patients with multifocal venous malformations.

Abstract

Blue rubber bleb nevus syndrome (BRBNS) and cutaneomucosal venous malformation (VMCM) both manifest as venous malformations (VMs) characterized by blue, compressible nodules. While BRBNS typically involves visceral organs, particularly the gastrointestinal (GI) tract, VMCM has conventionally been considered to spare internal organs. Our findings, however, reveal that VMCM can indeed extend to the GI system and demonstrate that endoscopic sclerotherapy is safe and effective for its management. This underscores the importance of genetic testing and systemic evaluation in patients with multifocal VMs, suggesting the need for revised diagnostic criteria and a more nuanced approach to classification of these disorders.

• Cutaneomucosal venous malformation (VMCM), traditionally considered limited to skin, can involve the gastrointestinal tract, challenging current diagnostic classifications and necessitating systemic evaluation in patients with multifocal venous malformations.

• Endoscopic Sclerotherapy is effective and safe for managing colonic venous malformations in VMCM, suggesting its potential as a first-line local therapy for GI involvement, analogous to approaches in BRBNS.

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