Open AccessCapillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review
Author(s) -
Anna Trier Heiberg Brix,
Pernille Mathiesen Tørring,
Anette Bygum
Publication year - 2022
Publication title -
acta dermato-venereologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.982
H-Index - 83
eISSN - 1651-2057
pISSN - 0001-5555
DOI - 10.2340/actadv.v102.1126
Subject(s) - arteriovenous malformation , vascular malformation , medicine , radiology
Capillary malformation-arteriovenous malformation syndrome is a rare genodermatosis with cutaneous capillary malformations and a risk of associated fast-flow malformations. We describe here a four-generation family with a novel heterozygous pathogenic variant in the EPHB4 gene (NM_004444.5 (EPHB4): c.2224G>C, p.(Ala742Pro)). A review of the literature retrieved 127 patients with capillary malformation-arteriovenous malformation syndrome and confirmed variants in EPHB4. Multiple capillary malformations were present in 114 (89.76%) patients, and 12 (9.44%) patients had a solitary capillary malformation. Arteriovenous malformations/fistulas were present in 23 (18.1%) patients, and were located within the central nervous system in 5 (3.9%) patients. Not all papers included description of epistaxis. Telangiectasias were reported in 28 (22%) patients, and Bier spots were described in 20 (15.7%) patients. The clinical characteristics of capillary malformation-arteriovenous malformation syndrome are diverse and often discrete, which can make it difficult to distinguish capillary malformation-arteriovenous malformation syndrome from hereditary haemorrhagic telangiectasia.