Back to Search
Start Over
EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report.
- Source :
-
Pediatric dermatology [Pediatr Dermatol] 2017 Sep; Vol. 34 (5), pp. e227-e230. Date of Electronic Publication: 2017 Jul 21. - Publication Year :
- 2017
-
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.<br /> (© 2017 Wiley Periodicals, Inc.)
Details
- Language :
- English
- ISSN :
- 1525-1470
- Volume :
- 34
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Pediatric dermatology
- Publication Type :
- Academic Journal
- Accession number :
- 28730721
- Full Text :
- https://doi.org/10.1111/pde.13208