血管异常的遗传基础。

Genetic basis for vascular anomalies.

作者信息

Kirkorian A Yasmine, Grossberg Anna L, Püttgen Katherine B

机构信息

George Washington University School of Medicine and Health Sciences, Division of Dermatology, Children's National Health System, Washington, DC, USA.

Johns Hopkins School of Medicine, Department of Dermatology, Baltimore, Maryland, USA.

出版信息

Semin Cutan Med Surg. 2016 Sep;35(3):128-36. doi: 10.12788/j.sder.2016.051.

DOI:10.12788/j.sder.2016.051

PMID:27607321

Abstract

The fundamental genetics of many isolated vascular anomalies and syndromes associated with vascular anomalies have been elucidated. The rate of discovery continues to increase, expanding our understanding of the underlying interconnected molecular pathways. This review summarizes genetic and clinical information on the following diagnoses: capillary malformation, venous malformation, lymphatic malformation, arteriovenous malformation, PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, SOLAMEN syndrome, Sturge-Weber syndrome, phakomatosis pigmentovascularis, congenital hemangioma, verrucous venous malformation, cutaneomucosal venous malformation, blue rubber bleb nevus syndrome, capillary malformation-arteriovenous malformation syndrome, Parkes-Weber syndrome, and Maffucci syndrome.

摘要

许多孤立性血管异常以及与血管异常相关的综合征的基础遗传学已得到阐明。发现的速度持续加快，拓展了我们对潜在相互关联分子途径的理解。本综述总结了以下诊断的遗传和临床信息：毛细血管畸形、静脉畸形、淋巴管畸形、动静脉畸形、PIK3CA相关过度生长谱系（PROS）、Proteus综合征、SOLAMEN综合征、Sturge-Weber综合征、色素血管性斑痣性错构瘤病、先天性血管瘤、疣状静脉畸形、皮肤黏膜静脉畸形、蓝色橡皮疱痣综合征、毛细血管畸形-动静脉畸形综合征、Parkes-Weber综合征和Maffucci综合征。