Zhonghua Yu Fang Yi Xue Za Zhi. 2026 Oct 6;60(10):1704-1710. doi: 10.3760/cma.j.cn112150-20251016-00993.
ABSTRACT
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a rare hereditary vascular disorder encountered in clinical practice. Owing to its complex pathogenesis, heterogeneous clinical manifestations, and challenging diagnostic criteria, CM-AVM syndrome is frequently misdiagnosed or underdiagnosed clinically. Accumulating studies have demonstrated that CM-AVM syndrome is predominantly induced by mutations in the RASA1 and EPHB4 genes. Such genetic aberrations activate the Ras/MAPK signaling pathway, thereby driving the onset and progression of the disease. The primary clinical hallmark of CM-AVM syndrome is widespread multiple cutaneous capillary spots, which are often accompanied by deep-seated arteriovenous malformations that may trigger severe systemic complications. The definitive diagnosis of this syndrome relies on comprehensive integration of clinical manifestations, imaging findings, and genetic testing results. Current therapeutic strategies for CM-AVM syndrome include laser therapy, photodynamic therapy, targeted pharmacotherapy, and interventional surgery. This review systematically summarizes the latest research advances in the etiology, pathogenesis, clinical manifestations, diagnosis, and management of CM-AVM syndrome, aiming to deepen the clinical understanding of this rare disease and provide evidence-based references for the optimization of individualized treatment regimens in future clinical practice.
PMID:42893921 | DOI:10.3760/cma.j.cn112150-20251016-00993