{"title":"[Research progress of <i>GNAQ</i>/<i>GNA11</i>-related capillary malformation spectrum].","authors":"R He, L Ma, Z G Xu, B Zhang","doi":"10.3760/cma.j.cn112150-20240728-00605","DOIUrl":null,"url":null,"abstract":"<p><p>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 <i>GNAQ</i> and <i>GNA11</i> 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 <i>GNAQ</i>/<i>GNA11</i> related capillary malformation diseases, offering a comprehensive summary and in-depth discussion of their pathogenic mechanisms, clinical presentations, and treatment options.</p>","PeriodicalId":24033,"journal":{"name":"中华预防医学杂志","volume":"59 2","pages":"247-253"},"PeriodicalIF":0.0000,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"中华预防医学杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3760/cma.j.cn112150-20240728-00605","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
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.
期刊介绍：
Chinese Journal of Preventive Medicine (CJPM), the successor to Chinese Health Journal , was initiated on October 1, 1953. In 1960, it was amalgamated with the Chinese Medical Journal and the Journal of Medical History and Health Care , and thereafter, was renamed as People’s Care . On November 25, 1978, the publication was denominated as Chinese Journal of Preventive Medicine . The contents of CJPM deal with a wide range of disciplines and technologies including epidemiology, environmental health, nutrition and food hygiene, occupational health, hygiene for children and adolescents, radiological health, toxicology, biostatistics, social medicine, pathogenic and epidemiological research in malignant tumor, surveillance and immunization.
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