Genetic basis for vascular anomalies

被引:9
|
作者
Kirkorian, A. Yasmine [1 ]
Grossberg, Anna L. [2 ]
Puttgen, Katherine B. [2 ]
机构
[1] George Washington Univ, Sch Med & Hlth Sci, Childrens Natl Hlth Syst, Div Dermatol, Washington, DC 20052 USA
[2] Johns Hopkins Sch Med, Dept Dermatol, Baltimore, MD USA
关键词
MALFORMATION-ARTERIOVENOUS MALFORMATION; MARMORATA TELANGIECTATICA CONGENITA; PIK3CA-RELATED OVERGROWTH SPECTRUM; SOMATIC ACTIVATING MUTATIONS; RASA1; MUTATIONS; CAPILLARY MALFORMATION; SEGMENTAL OVERGROWTH; PROTEUS SYNDROME; CLOVES SYNDROME; VENOUS MALFORMATION;
D O I
10.12788/j.sder.2016.051
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
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. (C) 2016 Frontline Medical Communications
引用
收藏
页码:128 / 136
页数:9
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