Abstract
Capillary malformation - Arteriovenous malformation syndrome (CM-AVM) is a rare genodermatosis with cutaneous capillary malformations (CMs) and a risk of associated fast-flow malformations. A four-generation family with a novel heterozygous pathogenic variant in the EPHB4-gene (NM_004444.5 (EPHB4): c.2224G>C, p.(Ala742Pro)) is presented. Based on a review of literature we retrieved 127 CM-AVM2 patients with confirmed variants in EPHB4. Multiple CMs were present in 114 (89,76 %) patients and 12 (9,44 %) patients had a solitary CM. arteriovenous malformations/fistulas were present in 23 (18,1 %) patients and located within CNS in five (3,9 %) patients. Not all included papers included description of epistaxis. Telangiectasias were reported in 28 (22 %) patients and Bier spots described in 20 (15,7 %) patients. The clinical characteristics of CM-AVM2 are diverse and often discrete which makes it difficult to distinguish CM-AVM2 from HHT.
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