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

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 conventionall...

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Main Authors: Jiaxue Zhu, Wei Liu, Zehua Zhang, Bensong Duan, Xiaohan Yan
Format: Article
Language:English
Published: BMC 2025-06-01
Series:Hereditas
Subjects:
Online Access:https://doi.org/10.1186/s41065-025-00486-5
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author Jiaxue Zhu
Wei Liu
Zehua Zhang
Bensong Duan
Xiaohan Yan
author_facet Jiaxue Zhu
Wei Liu
Zehua Zhang
Bensong Duan
Xiaohan Yan
author_sort Jiaxue Zhu
collection DOAJ
description 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.
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institution Matheson Library
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series Hereditas
spelling doaj-art-9e60142f53a04e7f9fb63f719e10e9042025-06-29T11:11:44ZengBMCHereditas1601-52232025-06-0116211410.1186/s41065-025-00486-5Managing gastrointestinal involvement in cutaneomucosal venous malformation: safety and efficacy of endoscopic sclerotherapyJiaxue Zhu0Wei Liu1Zehua Zhang2Bensong Duan3Xiaohan Yan4Department of Interventional Therapy, Multidisciplinary Team of Vascular Anomalies, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University School of MedicineEndoscopy Center, Department of Gastroenterology, Shanghai East Hospital, School of Medicine, Tongji UniversityEndoscopy Center, Department of Gastroenterology, Shanghai East Hospital, School of Medicine, Tongji UniversityEndoscopy Center, Department of Gastroenterology, Shanghai East Hospital, School of Medicine, Tongji UniversityEndoscopy Center, Department of Gastroenterology, Shanghai East Hospital, School of Medicine, Tongji UniversityAbstract 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.https://doi.org/10.1186/s41065-025-00486-5Cutaneomucosal venous malformationEndoscopic SclerotherapyTEKBlue Rubber Bleb Nevus Syndrome
spellingShingle Jiaxue Zhu
Wei Liu
Zehua Zhang
Bensong Duan
Xiaohan Yan
Managing gastrointestinal involvement in cutaneomucosal venous malformation: safety and efficacy of endoscopic sclerotherapy
Hereditas
Cutaneomucosal venous malformation
Endoscopic Sclerotherapy
TEK
Blue Rubber Bleb Nevus Syndrome
title Managing gastrointestinal involvement in cutaneomucosal venous malformation: safety and efficacy of endoscopic sclerotherapy
title_full Managing gastrointestinal involvement in cutaneomucosal venous malformation: safety and efficacy of endoscopic sclerotherapy
title_fullStr Managing gastrointestinal involvement in cutaneomucosal venous malformation: safety and efficacy of endoscopic sclerotherapy
title_full_unstemmed Managing gastrointestinal involvement in cutaneomucosal venous malformation: safety and efficacy of endoscopic sclerotherapy
title_short Managing gastrointestinal involvement in cutaneomucosal venous malformation: safety and efficacy of endoscopic sclerotherapy
title_sort managing gastrointestinal involvement in cutaneomucosal venous malformation safety and efficacy of endoscopic sclerotherapy
topic Cutaneomucosal venous malformation
Endoscopic Sclerotherapy
TEK
Blue Rubber Bleb Nevus Syndrome
url https://doi.org/10.1186/s41065-025-00486-5
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