A case of capillary malformation-arteriovenous malformation and Ebstein's anomaly in a child with EphB4 mutation

被引：1

作者：

Sherwani, Yousuf ^{[1
]}

Jenkins, Samantha ^{[2
]}

Adelanwa, Ayodele ^{[3
]}

Burch, David Marshall ^{[3
]}

Chaudhuri, Nita Ray ^{[4
]}

Zinn, Zachary ^{[2
]}

机构：

[1] West Virginia Univ, Sch Med, Morgantown, WV 26506 USA

[2] West Virginia Univ, Sch Med, Dept Dermatol, Morgantown, WV 26506 USA

[3] West Virginia Sch Med, Dept Pathol, Morgantown, WV 26506 USA

[4] West Virginia Univ, Sch Med, Dept Pediat, Morgantown, WV 26506 USA

来源：

PEDIATRIC DERMATOLOGY | 2021年 / 38卷 / 05期

关键词：

arteriovenous malformation; capillary malformations; Ebstein's anomaly; genetic mutations;

D O I：

10.1111/pde.14723

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Capillary malformation-arteriovenous malformation (CM-AVM) is a rare condition characterized by multiple cutaneous capillary malformations with potential associated arteriovenous malformations. RAS p21 protein activator 1 (RASA1) and ephrin type-B receptor 4 (EPHB4) genes are implicated. We present a child with CM-AVM, due to EPHB4 mutation, and Ebstein's anomaly. Although EPHB4 is a known effector of vascular remodeling, its contribution to cardiogenesis is still being explored. Further research is needed to determine causality of Ebstein's anomaly in the setting of CM-AVM due to EPHB4 mutation.

引用

页码：1305 / 1307

页数：3

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