EPHB 4 Mutation Implicated in Capillary Malformation–Arteriovenous Malformation Syndrome: A Case Report

Capillary malformation–arteriovenous malformation ( CM ‐ AVM ) syndrome, due to inactivating mutations in RASA 1 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 pat...

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Bibliographic Details
Published in:Pediatric dermatology 2017-09, Vol.34 (5)
Main Authors: Yu, JiaDe, Streicher, Jenna L., Medne, Livija, Krantz, Ian D., Yan, Albert C.
Format: Article
Language:English
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Summary:Capillary malformation–arteriovenous malformation ( CM ‐ AVM ) syndrome, due to inactivating mutations in RASA 1 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 RASA 1 mutations. We present the case of a child with RASA 1 ‐negative CM ‐ AVM syndrome with a de novo missense mutation in EPHB 4 , a transmembrane tyrosine kinase receptor essential for vasculogenesis. Inactivating the mutation in EPHB 4 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.
ISSN:0736-8046
1525-1470
DOI:10.1111/pde.13208