Research progress of GNAQ/ GNA11-related capillary malformation spectrum

VernacularTitle:GNAQ/ GNA11相关毛细血管畸形疾病谱的研究进展
Author: Rui HE ¹ ; Lin MA ; Zigang XU ; Bin ZHANG
Author Information

1. 首都医科大学附属北京安贞医院皮肤科，北京　100020
Publication Type:Journal Article
Keywords: Capillary malformations; GNAQ/ GNA11 gene mutations; Pathogenic mechanisms; Diagnostic and therapeutic strategies
From: Chinese Journal of Preventive Medicine 2025;59(2):247-253
CountryChina
Language:Chinese
Abstract: Capillary malformations (CM), the most common type of vascular malformations, has a wide range of clinical needs for diagnosis and treatment. In-depth research and effective management strategies need to be developed for this disease. Beyond the simplex forms of CM, there exists a broad category of disorders manifested as CM-related syndromes, closely associated with somatic mutations in the GNAQ and GNA11 genes. These diseases present numerous commonalities and differences in clinical manifestations, associated symptoms, and management outcomes, posing challenges for clinical diagnosis, differential diagnosis, and standardized treatment. Considering this, this article aims to provide an overview of the latest research advancements in the spectrum of GNAQ/ GNA11 related capillary malformation diseases, offering a comprehensive summary and in-depth discussion of their pathogenic mechanisms, clinical presentations, and treatment options.