EPHB4 Mutation Implicated in Capillary Malformation –Arteriovenous Malformation Syndrome: A Case Report

We present the case of a child with RASA1‐negative CM‐AVM syndrome with a de novo missense mutation in EPHB4, a transmembrane tyrosine kinase receptor essential for vasculogenesis. Inactivating the mutation in EPHB4 has been shown to upregulate the mitogen‐activated protein kinase pathway and the mammalian target of rapamycin complex 1, possibly contributing to the development of vascular malformations.

http://onlinelibrary.wiley.com/resolve/doi?DOI=10.1111%2Fpde.13208

Source: Pediatric Dermatology - July 1, 2017 Category: Dermatology Authors: JiaDe Yu, Jenna L. Streicher, Livija Medne, Ian D. Krantz, Albert C. Yan Tags: Case Report Source Type: research