{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T16:03:53Z","timestamp":1774627433435,"version":"3.50.1"},"reference-count":5,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,12,13]],"date-time":"2023-12-13T00:00:00Z","timestamp":1702425600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Capillary malformation\u2013arteriovenous malformation is a rare autosomal dominant disorder associated with <jats:italic>EPHB4<\/jats:italic> loss\u2010of\u2010function mutations. We report the unique\u00a0presentation of a 6\u2010year\u2010old girl with multiple capillary malformations in a unilateral segmental distribution affecting the right hemiface, right upper chest, and right arm associated with overgrowth. Targeted next\u2010generation sequencing on a tissue sample revealed a novel heterozygotic variant in the <jats:italic>EPHB4<\/jats:italic> gene (NM_004444.5 (EPHB4): c.715T&gt;A, p.[Cys239Ser]). This case highlights a distinct presentation of CM\u2010AVM type 2 and showcases a new variant in <jats:italic>EPHB4<\/jats:italic> not previously reported in the literature.<\/jats:p>","DOI":"10.1111\/pde.15493","type":"journal-article","created":{"date-parts":[[2023,12,14]],"date-time":"2023-12-14T05:19:45Z","timestamp":1702531185000},"page":"344-345","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Unilateral segmental presentation and a novel <scp><i>EPHB4<\/i><\/scp> gene variant in capillary malformation\u2013arteriovenous malformation type 2"],"prefix":"10.1111","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6910-9248","authenticated-orcid":false,"given":"C.","family":"Valente","sequence":"first","affiliation":[{"name":"Dermatology and Venereology Department Centro Hospitalar Universit\u00e1rio de Lisboa Central  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. B.","family":"Caldeira","sequence":"additional","affiliation":[{"name":"Dermatology and Venereology Department Centro Hospitalar Universit\u00e1rio de Lisboa Central  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4757-0679","authenticated-orcid":false,"given":"B.","family":"Duarte","sequence":"additional","affiliation":[{"name":"Dermatology and Venereology Department Centro Hospitalar Universit\u00e1rio de Lisboa Central  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Batista","sequence":"additional","affiliation":[{"name":"Dermatology and Venereology Department Centro Hospitalar Universit\u00e1rio de Lisboa Central  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. I.","family":"Cordeiro","sequence":"additional","affiliation":[{"name":"Primary Immunodeficiencies Unit Centro Hospitalar Universit\u00e1rio de Lisboa Central  Lisbon Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,12,13]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.116.026886"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.2340\/actadv.v102.1126"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s41065-020-00143-z"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy218"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6345"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15493","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,31]],"date-time":"2025-01-31T14:20:57Z","timestamp":1738333257000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15493"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,13]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1111\/pde.15493"],"URL":"https:\/\/doi.org\/10.1111\/pde.15493","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,13]]},"assertion":[{"value":"2023-07-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-28","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-13","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}