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

C Valente; M B Caldeira; B Duarte; J Batista; A I Cordeiro

doi:10.1111/pde.15493

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

Pediatr Dermatol. 2024 Mar-Apr;41(2):344-345. doi: 10.1111/pde.15493. Epub 2023 Dec 13.

Authors

C Valente¹, M B Caldeira¹, B Duarte¹, J Batista¹, A I Cordeiro²

Affiliations

¹ Dermatology and Venereology Department, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal.
² Primary Immunodeficiencies Unit, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal.

PMID: 38092051
DOI: 10.1111/pde.15493

Abstract

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.

Keywords: EphB4; capillary malformation-arteriovenous malformation; capillary malformations.

Publication types

Case Reports

MeSH terms

Arteriovenous Malformations* / diagnosis
Arteriovenous Malformations* / genetics
Capillaries / abnormalities*
Child
Female
Humans
Mutation
Port-Wine Stain* / genetics
p120 GTPase Activating Protein / genetics

Substances

p120 GTPase Activating Protein

Supplementary concepts

Capillary Malformation-Arteriovenous Malformation