{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T11:02:34Z","timestamp":1781521354298,"version":"3.54.1"},"reference-count":41,"publisher":"Medical Journals Sweden AB","license":[{"start":{"date-parts":[[2022,3,7]],"date-time":"2022-03-07T00:00:00Z","timestamp":1646611200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Derm Venereol"],"abstract":"<jats:p>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&gt;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.<\/jats:p>","DOI":"10.2340\/actadv.v102.1126","type":"journal-article","created":{"date-parts":[[2022,1,28]],"date-time":"2022-01-28T12:29:15Z","timestamp":1643372955000},"page":"adv00662","source":"Crossref","is-referenced-by-count":12,"title":["Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review"],"prefix":"10.2340","volume":"102","author":[{"given":"Anna Trier Heiberg","family":"Brix","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pernille Mathiesen","family":"T\u00f8rring","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anette","family":"Bygum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1183","published-online":{"date-parts":[[2022,3,7]]},"reference":[{"key":"16220","doi-asserted-by":"crossref","unstructured":"Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe, S et al. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 2003; 73: 1240-1249.","DOI":"10.1086\/379793"},{"key":"16221","doi-asserted-by":"crossref","unstructured":"https:\/\/doi.org\/10.1086\/379793","DOI":"10.1086\/379793"},{"key":"16222","doi-asserted-by":"crossref","unstructured":"Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, et al. Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling. Circulation 2017; 136: 1037-1048.","DOI":"10.1161\/CIRCULATIONAHA.116.026886"},{"key":"16223","doi-asserted-by":"crossref","unstructured":"https:\/\/doi.org\/10.1161\/CIRCULATIONAHA.116.026886","DOI":"10.1161\/CIRCULATIONAHA.116.026886"},{"key":"16224","doi-asserted-by":"crossref","unstructured":"Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, et al. RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat 2013; 34: 1632-1641.","DOI":"10.1002\/humu.22431"},{"key":"16225","doi-asserted-by":"crossref","unstructured":"https:\/\/doi.org\/10.1002\/humu.22431","DOI":"10.1002\/humu.22431"},{"key":"16226","doi-asserted-by":"crossref","unstructured":"Orme CM, Boyden LM, Choate KA, Antaya RJ, King BA. Capillary malformation-arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management. Pediatr Dermatol 2013; 30: 409-415.","DOI":"10.1111\/pde.12112"},{"key":"16227","doi-asserted-by":"crossref","unstructured":"https:\/\/doi.org\/10.1111\/pde.12112","DOI":"10.1111\/pde.12112"},{"key":"16228","doi-asserted-by":"crossref","unstructured":"Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, et al. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat 2008; 29: 959-965.","DOI":"10.1002\/humu.20746"},{"key":"16229","doi-asserted-by":"crossref","unstructured":"https:\/\/doi.org\/10.1002\/humu.20746","DOI":"10.1002\/humu.20746"},{"key":"16230","doi-asserted-by":"crossref","unstructured":"Lapinski PE, Doosti A, Salato V, North P, Burrows PE, King PD. Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation. Eur J Med Genet 2018; 61: 11-16.","DOI":"10.1016\/j.ejmg.2017.10.004"},{"key":"16231","doi-asserted-by":"crossref","unstructured":"https:\/\/doi.org\/10.1016\/j.ejmg.2017.10.004","DOI":"10.1016\/j.ejmg.2017.10.004"},{"key":"16232","doi-asserted-by":"crossref","unstructured":"Amyere M, Aerts V, Brouillard P, McIntyre BA, Duhoux FP, Wassef M, et al. Somatic uniparental isodisomy explains multifocality of glomuvenous malformations. 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Acta Derm Venereol 2018; 98: 251-255.","DOI":"10.2340\/00015555-2835"},{"key":"16237","doi-asserted-by":"crossref","unstructured":"https:\/\/doi.org\/10.2340\/00015555-2835","DOI":"10.2340\/00015555-2835"},{"key":"16238","doi-asserted-by":"crossref","unstructured":"Cen Q, Sun Y, Zeng X, Liu Y, Liu F, Chen H, et al. Unilateral and segmental distribution of facial erythema: is it a real port-wine stain? Hereditas 2020; 157: 27.","DOI":"10.1186\/s41065-020-00143-z"},{"key":"16239","doi-asserted-by":"crossref","unstructured":"https:\/\/doi.org\/10.1186\/s41065-020-00143-z","DOI":"10.1186\/s41065-020-00143-z"},{"key":"16240","doi-asserted-by":"crossref","unstructured":"Wooderchak-Donahue WL, Akay G, Whitehead K, Briggs E, Stenvenson DA, O'Fallon B, et al. Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? 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Histopathologic and ultrasound characteristics of cutaneous capillary malformations in a patient with capillary malformation-arteriovenous malformation syndrome. Pediatr Dermatol 2015; 32: 128-131.","DOI":"10.1111\/pde.12188"},{"key":"16246","doi-asserted-by":"crossref","unstructured":"https:\/\/doi.org\/10.1111\/pde.12188","DOI":"10.1111\/pde.12188"},{"key":"16247","doi-asserted-by":"crossref","unstructured":"Rodr\u00edguez Bandera AI, Feito Rodr\u00edguez M, Chiloeches Fern\u00e1ndez C, Stewart N, Valdivielso-Ramos M. Role of colour-Doppler high-frequency ultrasonography in capillary malformation-arteriovenous malformation syndrome: a case series. Australas J Dermatol 2020; 61: 349-352.","DOI":"10.1111\/ajd.13311"},{"key":"16248","doi-asserted-by":"crossref","unstructured":"https:\/\/doi.org\/10.1111\/ajd.13311","DOI":"10.1111\/ajd.13311"},{"key":"16249","doi-asserted-by":"crossref","unstructured":"Kluger N, Bessis D. Bier's spots. J Eur Acad Dermatol Venereol 2019; 33: e78-e79.","DOI":"10.1111\/jdv.15222"},{"key":"16250","doi-asserted-by":"crossref","unstructured":"https:\/\/doi.org\/10.1111\/jdv.15222","DOI":"10.1111\/jdv.15222"},{"key":"16251","doi-asserted-by":"crossref","unstructured":"El Hajjam M, Mekki A, Palmyre A, Eyries M, Soubrier F, Bourgault Villada I, et al. RASA1 phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports. J Med Genet 2021; 58: 645-647.","DOI":"10.1136\/jmedgenet-2019-106792"},{"key":"16252","doi-asserted-by":"crossref","unstructured":"https:\/\/doi.org\/10.1136\/jmedgenet-2019-106792","DOI":"10.1136\/jmedgenet-2019-106792"},{"key":"16253","doi-asserted-by":"crossref","unstructured":"Yu J, Streicher JL, Medne L, Krantz ID, Yan AC. EPHB4 Mutation implicated in capillary malformation-arteriovenous malformation syndrome: a case report. 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