Qin Zeng, Wenmin Lu, Ying Ye, Ming Li, Hongsong Ge, Qiaoyu Cao, Wei He, Cheng Zhang, Wei Song
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引用次数: 0
Abstract
Capillary malformation-arteriovenous malformation (CM-AVM) is a genetic condition predominantly attributed to variations in the RASA1 or EPHB4 genes. We identified three genetic variations: a variation in the RASA1 (c.2603+1G>A) and two novel variations in the EPHB4 (c.53-2A>G and c.2222T>C), expanding the spectrum of variants associated with CM-AVM. Additionally, we found that the presence of EPHB4 variations in these two families, alongside a documented history of Bier spots, highlights the impact of genetic factors on disease phenotype. We also conducted 595 nm pulsed dye laser therapy on the proband 2, and observed that facial telangiectasia was significantly reduced after the laser treatment. We aim to enhance the understanding of the disease through case studies of three families.
期刊介绍：
The Journal of Dermatology is the official peer-reviewed publication of the Japanese Dermatological Association and the Asian Dermatological Association. The journal aims to provide a forum for the exchange of information about new and significant research in dermatology and to promote the discipline of dermatology in Japan and throughout the world. Research articles are supplemented by reviews, theoretical articles, special features, commentaries, book reviews and proceedings of workshops and conferences.
Preliminary or short reports and letters to the editor of two printed pages or less will be published as soon as possible. Papers in all fields of dermatology will be considered.
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