{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T16:04:21Z","timestamp":1774627461556,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,3,31]],"date-time":"2024-03-31T00:00:00Z","timestamp":1711843200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report two cases with localized vascular malformations clinically resembling the \u201cdominant lesion\u201d seen in capillary malformation\u2010arteriovenous malformation (CM\u2010AVM) syndrome, however, lacking germline <jats:italic>RASA1<\/jats:italic> variants but presenting double somatic <jats:italic>RASA1<\/jats:italic> variants in affected tissue. Both patients presented with localized and superficial high\u2010flow vascular malformations were treated with surgery and laser therapy and showed partial resolution. The study underscores the rarity of somatic <jats:italic>RASA1<\/jats:italic> variants, contributes to understanding the \u201csecond\u2010hit\u201d pathophysiology in vascular lesions, and emphasizes the significance of clinical distinctions and genotyping for accurate diagnoses, offering implications for diagnosis, prognosis, and genetic counseling.<\/jats:p>","DOI":"10.1111\/pde.15598","type":"journal-article","created":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T05:30:20Z","timestamp":1711949420000},"page":"861-865","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Single dominant lesion in capillary malformation\u2010arteriovenous malformation (<scp>CM\u2010AVM<\/scp>) <scp><i>RASA1<\/i><\/scp> syndrome"],"prefix":"10.1111","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5136-2851","authenticated-orcid":false,"given":"Luis Fernando","family":"S\u00e1nchez\u2010Espino","sequence":"first","affiliation":[{"name":"Dermatology Department Barcelona Children's Hospital Sant Joan de D\u00e9u  Barcelona Catalu\u00f1a Spain"},{"name":"Multidisciplinary Vascular Anomalies Clinic, Barcelona Children's Hospital Sant Joan de D\u00e9u  Barcelona Catalu\u00f1a Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Ivars","sequence":"additional","affiliation":[{"name":"Dermatology Department Barcelona Children's Hospital Sant Joan de D\u00e9u  Barcelona Catalu\u00f1a Spain"},{"name":"Multidisciplinary Vascular Anomalies Clinic, Barcelona Children's Hospital Sant Joan de D\u00e9u  Barcelona Catalu\u00f1a Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolina","family":"Prat Torres","sequence":"additional","affiliation":[{"name":"Dermatology Department Barcelona Children's Hospital Sant Joan de D\u00e9u  Barcelona Catalu\u00f1a Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cinzia E.","family":"Lavarino","sequence":"additional","affiliation":[{"name":"Molecular Oncology Department Barcelona Children's Hospital Sant Joan de D\u00e9u  Barcelona Catalu\u00f1a Spain"},{"name":"Oncology Department Barcelona Children's Hospital Sant Joan de D\u00e9u  Barcelona Catalu\u00f1a Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nagore Gen\u00e9","family":"Olaciregui","sequence":"additional","affiliation":[{"name":"Molecular Oncology Department Barcelona Children's Hospital Sant Joan de D\u00e9u  Barcelona Catalu\u00f1a Spain"},{"name":"Oncology Department Barcelona Children's Hospital Sant Joan de D\u00e9u  Barcelona Catalu\u00f1a Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlota Rovira","family":"Zurriaga","sequence":"additional","affiliation":[{"name":"Multidisciplinary Vascular Anomalies Clinic, Barcelona Children's Hospital Sant Joan de D\u00e9u  Barcelona Catalu\u00f1a Spain"},{"name":"Pathology Department Barcelona Children's Hospital Sant Joan de D\u00e9u  Barcelona Catalu\u00f1a Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ver\u00f3nica P. Celis","family":"Passini","sequence":"additional","affiliation":[{"name":"Multidisciplinary Vascular Anomalies Clinic, Barcelona Children's Hospital Sant Joan de D\u00e9u  Barcelona Catalu\u00f1a Spain"},{"name":"Oncology Department Barcelona Children's Hospital Sant Joan de D\u00e9u  Barcelona Catalu\u00f1a Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel Bejarano","family":"Serrano","sequence":"additional","affiliation":[{"name":"Multidisciplinary Vascular Anomalies Clinic, Barcelona Children's Hospital Sant Joan de D\u00e9u  Barcelona Catalu\u00f1a Spain"},{"name":"Surgery Department Barcelona Children's Hospital Sant Joan de D\u00e9u  Barcelona Catalu\u00f1a Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eul\u00e0lia","family":"Baselga","sequence":"additional","affiliation":[{"name":"Dermatology Department Barcelona Children's Hospital Sant Joan de D\u00e9u  Barcelona Catalu\u00f1a Spain"},{"name":"Multidisciplinary Vascular Anomalies Clinic, Barcelona Children's Hospital Sant Joan de D\u00e9u  Barcelona Catalu\u00f1a Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,3,31]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/379793"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13499"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.14428"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37613"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/ajd.13651"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.116.026886"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106024"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.01.009"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.16326"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.14095"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2021.104324"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.14676"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15598","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,17]],"date-time":"2025-01-17T12:14:02Z","timestamp":1737116042000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15598"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,31]]},"references-count":12,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,9]]}},"alternative-id":["10.1111\/pde.15598"],"URL":"https:\/\/doi.org\/10.1111\/pde.15598","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,31]]},"assertion":[{"value":"2023-11-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-31","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}