Dermatology Department, Pediatric Dermatology, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Pediatr Clin North Am. 2010 Oct;57(5):1111-20. doi: 10.1016/j.pcl.2010.07.001.
Historically, vascular malformations were not thought to be the result of genetic abnormalities because most of those presenting clinically are sporadic. However, research in this field has expanded over the last decade, leading to the identification of genetic defects responsible for several inherited forms of vascular malformations and associated syndromes, which has shed light on the pathogenesis of sporadic lesions. This advancement in the field has not only enhanced diagnostic capabilities but also improved our understanding of the potential role of complex genetic mechanisms in vascular malformation development. This article focuses on genetic contributions of vascular malformations in the context of syndromes and the tests that are available.
从历史上看，血管畸形并不被认为是遗传异常的结果，因为临床上大多数血管畸形都是散发性的。然而，过去十年中该领域的研究不断扩展，导致确定了几种遗传性血管畸形和相关综合征的遗传缺陷，这为散发性病变的发病机制提供了线索。该领域的这一进展不仅增强了诊断能力，还加深了我们对复杂遗传机制在血管畸形发展中潜在作用的理解。本文重点介绍了综合征背景下血管畸形的遗传贡献以及可用的检测方法。
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