Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review

Authors

  • Anna Trier Heiberg Brix Department of Clinical Genetics, Odense University Hospital, J. B. Winsløwsvej 19, 3, DK-5000 Odense, Denmark
  • Pernille Mathiesen Tørring
  • Anette Bygum

DOI:

https://doi.org/10.2340/actadv.v102.1126

Keywords:

CM-AVM2, EPHB4, arteriovenous malformation, capillary malformation-arteriovenous malformation syndrome

Abstract

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.

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Published

2022-03-07

How to Cite

Brix, A. T. H., Tørring, P. M., & Bygum, A. (2022). Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review. Acta Dermato-Venereologica, 102, adv00662. https://doi.org/10.2340/actadv.v102.1126