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Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review.
- Source :
- Acta Dermato-Venereologica; 2022, Vol. 102, p1-5, 5p
- Publication Year :
- 2022
-
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 malformationarteriovenous malformation syndrome from hereditary haemorrhagic telangiectasia. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 00015555
- Volume :
- 102
- Database :
- Complementary Index
- Journal :
- Acta Dermato-Venereologica
- Publication Type :
- Academic Journal
- Accession number :
- 161259052
- Full Text :
- https://doi.org/10.2340/actadv.v102.1126