Unilateral segmental presentation and a novel EPHB4 gene variant in capillary malformation-arteriovenous malformation type 2

Capillary malformation-arteriovenous malformation is a rare autosomal dominant disorder associated with EPHB4 loss-of-function mutations. We report the unique presentation of a 6-year-old girl with multiple capillary malformations in a unilateral segmental distribution affecting the right hemiface,...

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Veröffentlicht in:	Pediatric dermatology 2024-03, Vol.41 (2), p.344-345
Hauptverfasser:	Valente, C, Caldeira, M B, Duarte, B, Batista, J, Cordeiro, A I
Format:	Artikel
Sprache:	eng
Schlagworte:	Case reports Deformities EphB4 gene Genetic disorders Hereditary diseases Pediatrics Vein & artery diseases
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container_title	Pediatric dermatology
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creator	Valente, C Caldeira, M B Duarte, B Batista, J Cordeiro, A I
description	Capillary malformation-arteriovenous malformation is a rare autosomal dominant disorder associated with EPHB4 loss-of-function mutations. We report the unique presentation of a 6-year-old girl with multiple capillary malformations in a unilateral segmental distribution affecting the right hemiface, right upper chest, and right arm associated with overgrowth. Targeted next-generation sequencing on a tissue sample revealed a novel heterozygotic variant in the EPHB4 gene (NM_004444.5 (EPHB4): c.715T>A, p.[Cys239Ser]). This case highlights a distinct presentation of CM-AVM type 2 and showcases a new variant in EPHB4 not previously reported in the literature.
doi_str_mv	10.1111/pde.15493
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subjects	Case reports Deformities EphB4 gene Genetic disorders Hereditary diseases Pediatrics Vein & artery diseases
title	Unilateral segmental presentation and a novel EPHB4 gene variant in capillary malformation-arteriovenous malformation type 2
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