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

IF 2.7 3区 生物学
Jiaxue Zhu, Wei Liu, Zehua Zhang, Bensong Duan, Xiaohan Yan
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引用次数: 0

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.

处理皮肤粘膜静脉畸形的胃肠道受累:内镜硬化治疗的安全性和有效性。
蓝色橡胶水泡痣综合征(BRBNS)和皮肤粘膜静脉畸形(VMCM)都表现为静脉畸形(vm),其特征是蓝色可压缩结节。BRBNS通常涉及内脏器官,特别是胃肠道,而VMCM通常被认为不涉及内脏器官。然而,我们的研究结果表明VMCM确实可以扩展到胃肠道系统,并证明内窥镜硬化疗法对其管理是安全有效的。这强调了多灶性vm患者基因检测和系统评估的重要性,表明需要修订诊断标准和更细致的方法来分类这些疾病。
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来源期刊
Hereditas
Hereditas Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
3.80
自引率
3.70%
发文量
0
期刊介绍: For almost a century, Hereditas has published original cutting-edge research and reviews. As the Official journal of the Mendelian Society of Lund, the journal welcomes research from across all areas of genetics and genomics. Topics of interest include human and medical genetics, animal and plant genetics, microbial genetics, agriculture and bioinformatics.
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