Division of Plastic Surgery, Center for Vascular Anomalies, Cliniques Universitaires St Luc, Brussels, Belgium.
Clin Plast Surg. 2011 Jan;38(1):7-19. doi: 10.1016/j.cps.2010.08.012.
Vascular anomalies are localized defects of vascular development. Most of them occur sporadically (ie, there is no familial history of lesions, yet in a few cases clear inheritance is observed). These inherited forms are often characterized by multifocal lesions that are mainly small in size and increase in number with patients' age. The authors review the known (genetic) causes of vascular anomalies and call attention to the concept of Knudson's double-hit mechanism to explain incomplete penetrance and large clinical variation in expressivity observed in inherited vascular anomalies. The authors also discuss the identified pathophysiological pathways involved in vascular anomalies and how it has opened the doors toward a more refined classification of vascular anomalies and the development of animal models that can be tested for specific molecular therapies.
血管异常是血管发育的局部缺陷。它们中的大多数是散发性的（即，病变没有家族史，但在少数情况下可以观察到明确的遗传）。这些遗传性形式通常以多发病灶为特征，主要是小病灶，且随着患者年龄的增长而数量增加。作者回顾了已知的（遗传）血管异常原因，并提请注意 Knudson 的双重打击机制的概念，以解释遗传性血管异常中观察到的不完全外显率和临床表现的巨大变异性。作者还讨论了涉及血管异常的已确定的病理生理途径，以及它如何为血管异常的更精细分类和可用于特定分子治疗的动物模型的开发开辟了道路。
