McCuaig Catherine C
CHU Sainte-Justine, University of Montreal, Montreal, Québec, Canada.
Curr Opin Pediatr. 2017 Aug;29(4):448-454. doi: 10.1097/MOP.0000000000000518.
This review provides an update of the classification in the classification of vascular anomalies since April 2014 at the International Society for the Study of Vascular Anomalies meeting in Melbourne, Australia.
The reader will become familiar with how to diagnose the major vascular malformations, including capillary, venous, arteriovenous, and lymphatic and combinations thereof. In addition, vascular malformation syndromes, including those with overgrowth, will be clarified.
Vascular malformations are common. Capillary malformations are now better understood through an updated classification. Verrucous hemangioma is truly a venulocapillary malformation that extends into the subcutis. PIK3Ca-Related Overgrowth Syndromes encompass Klippel-Trenaunay, Congenital Lipomatous Asymmetric Overgrowth of the Trunk with Lymphatic, Capillary, Venous, and Combined-Type Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal Anomalies, Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (M-CAP), fibroadipose hyperplasia, and macrodactyly. Yet another syndrome should be highlighted: Capillary Malformation of the Lower Lip, Lymphatic Malformation of the Face and Neck, Asymmetry and Partial/Generalized Overgrowth. Knowledge of the genetic basis of vascular malformations will lead to future treatments.
本综述对自2014年4月在澳大利亚墨尔本举行的国际血管异常研究学会会议以来的血管异常分类进行更新。
读者将熟悉如何诊断主要的血管畸形，包括毛细血管畸形、静脉畸形、动静脉畸形、淋巴管畸形及其组合。此外，还将阐明血管畸形综合征，包括那些伴有过度生长的综合征。
血管畸形很常见。通过更新的分类，现在对毛细血管畸形有了更好的理解。疣状血管瘤实际上是一种延伸至皮下组织的微静脉毛细血管畸形。PIK3Ca相关过度生长综合征包括克-特综合征、躯干先天性脂肪瘤性不对称过度生长伴淋巴管、毛细血管、静脉及混合型血管畸形、表皮痣、脊柱侧弯/骨骼和脊柱异常、巨头畸形-毛细血管畸形-多小脑回综合征（M-CAP）、纤维脂肪增生和巨指症。还应强调另一种综合征：下唇毛细血管畸形、面颈部淋巴管畸形、不对称及部分/全身过度生长。了解血管畸形的遗传基础将为未来的治疗带来希望。
