Zhu Jiaxue, Liu Wei, Zhang Zehua, Duan Bensong, Yan Xiaohan
Department of Interventional Therapy, Multidisciplinary Team of Vascular Anomalies, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, P. R. China.
Endoscopy Center, Department of Gastroenterology, Shanghai East Hospital, School of Medicine, Tongji University, Shanghai, 200120, China.
Hereditas. 2025 Jun 23;162(1):113. doi: 10.1186/s41065-025-00486-5.
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.
蓝色橡皮疱痣综合征(BRBNS)和皮肤黏膜静脉畸形(VMCM)均表现为以蓝色、可压缩性结节为特征的静脉畸形(VM)。虽然BRBNS通常累及内脏器官,尤其是胃肠道(GI),但传统上认为VMCM不累及内脏器官。然而,我们的研究结果表明,VMCM确实可累及GI系统,并证明内镜下硬化治疗对其治疗是安全有效的。这凸显了对多灶性VM患者进行基因检测和系统评估的重要性,提示需要修订诊断标准并采用更细致入微的方法对这些疾病进行分类。