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

Pediatr Dermatol. 2017 Sep;34(5):e227-e230. doi: 10.1111/pde.13208. Epub 2017 Jul 21.

Abstract

Capillary malformation-arteriovenous malformation (CM-AVM) syndrome, due to inactivating mutations in RASA1 in 68% of cases, is characterized by the development of cutaneous capillary malformations and arteriovenous malformations or fistulas; no known genetic etiology has been identified in patients with CM-AVM syndrome without RASA1 mutations. 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.

Publication types

  • Case Reports

MeSH terms

  • Arteriovenous Malformations / genetics*
  • Capillaries / abnormalities*
  • Child
  • Humans
  • Male
  • Mutation, Missense
  • Port-Wine Stain / genetics*
  • Receptor, EphB4 / genetics*
  • p120 GTPase Activating Protein / genetics

Substances

  • RASA1 protein, human
  • p120 GTPase Activating Protein
  • Receptor, EphB4

Supplementary concepts

  • Capillary Malformation-Arteriovenous Malformation