{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T11:41:46Z","timestamp":1756381306631,"version":"3.44.0"},"reference-count":22,"publisher":"BMJ","issue":"12","funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["GR-2016-02364133"],"award-info":[{"award-number":["GR-2016-02364133"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100021856","name":"Ministero dell'Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["2017HTKLRF"],"award-info":[{"award-number":["2017HTKLRF"]}],"id":[{"id":"10.13039\/501100021856","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010664","name":"H2020 Future and Emerging Technologies","doi-asserted-by":"publisher","award":["828984"],"award-info":[{"award-number":["828984"]}],"id":[{"id":"10.13039\/100010664","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,12,11]]},"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:p>Costello syndrome (CS) is a rare genetic syndrome affecting multiple organs, generally caused by mutations of the <jats:italic>HRAS<\/jats:italic> gene, belonging to the <jats:italic>RAS\/MAPK<\/jats:italic> genes family.<\/jats:p>\n               <jats:p>A male patient with CS developed a painful pulsatile mass on the lateral side of the wrist. An initial ultrasonographic investigation confirmed the presence of a radial artery lesion, possibly an arterial aneurysm. On surgical resection, histological evaluation showed a tangle of vascular structures with variable calibre and abnormal wall histology. Immunohistochemical stainings revealed a very poor endothelial contribution to the central vascular wall structure. These histological observations led us to conclude we had managed an acute vascular malformation (VM) rupture, rather than a common arterial aneurysmal condition. Considering the molecular mechanisms regulated by <jats:italic>RAS\/MAPK<\/jats:italic> genes, CS patients might have a higher risk of developing VMs and, in the presence of a pulsatile mass with acute onset, VM rupture should be considered.<\/jats:p>","DOI":"10.1136\/bcr-2022-250948","type":"journal-article","created":{"date-parts":[[2022,12,16]],"date-time":"2022-12-16T10:40:15Z","timestamp":1671187215000},"page":"e250948","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Vascular malformation rupture in a patient affected by Costello syndrome"],"prefix":"10.1136","volume":"15","author":[{"given":"Francesca","family":"Barbieri","sequence":"first","affiliation":[{"name":"Humanitas Clinical and Research Center - IRCCS, Rozzano, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ignacio Fernando","family":"Hall","sequence":"additional","affiliation":[{"name":"Humanitas Clinical and Research Center - IRCCS, Rozzano, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5011-0206","authenticated-orcid":false,"given":"Leonardo","family":"Elia","sequence":"additional","affiliation":[{"name":"Humanitas Clinical and Research Center - IRCCS, Rozzano, Milan, Italy"},{"name":"DMMT, Universit\u00e0 degli Studi di Brescia, Brescia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Efrem","family":"Civilini","sequence":"additional","affiliation":[{"name":"Humanitas Clinical and Research Center - IRCCS, Rozzano, Milan, Italy"},{"name":"Humanitas University, Rozzano, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,12,16]]},"reference":[{"key":"2025082804125570000_15.12.e250948.1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-091212-153523"},{"key":"2025082804125570000_15.12.e250948.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2019.10.001"},{"key":"2025082804125570000_15.12.e250948.3","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1002\/ajmg.a.61125","article-title":"First International Conference on RASopathies and neurofibromatoses in Asia: identification and advances of new therapeutics","volume":"179","author":"Rauen","year":"2019","journal-title":"Am J Med Genet A"},{"key":"2025082804125570000_15.12.e250948.4","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a009688","article-title":"Vascular anomalies: from genetics toward models for therapeutic trials","volume":"2","author":"Uebelhoer","year":"2012","journal-title":"Cold Spring Harb Perspect Med"},{"key":"2025082804125570000_15.12.e250948.5","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.jsha.2013.11.002","article-title":"Cardiac events in Costello syndrome: one case and a review of the literature","volume":"26","author":"Hakim","year":"2014","journal-title":"J Saudi Heart Assoc"},{"key":"2025082804125570000_15.12.e250948.6","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-021-01674-y","article-title":"Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status","volume":"16","author":"Leoni","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"2025082804125570000_15.12.e250948.7","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1002\/ajmg.a.61270","article-title":"Costello syndrome: clinical phenotype, genotype, and management guidelines","volume":"179","author":"Gripp","year":"2019","journal-title":"Am J Med Genet A"},{"key":"2025082804125570000_15.12.e250948.8","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1053\/j.sempedsurg.2014.07.005","article-title":"Arteriovenous malformations","volume":"23","author":"Uller","year":"2014","journal-title":"Semin Pediatr Surg"},{"key":"2025082804125570000_15.12.e250948.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.cps.2010.08.005"},{"key":"2025082804125570000_15.12.e250948.10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33857"},{"key":"2025082804125570000_15.12.e250948.11","unstructured":"Adam MP , Everman DB , Mirzaa GM , et al . 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