{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T21:47:17Z","timestamp":1777672037672,"version":"3.51.4"},"reference-count":11,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100011033","name":"Thermo Fisher Scientific","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011033","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Medicine High Impact Case Reports"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:p>Kaposiform lymphangiomatosis (KLA) is a rare and aggressive generalized lymphatic anomaly (GLA), with distinctive clinical, radiology, morphologic, and genetic features. It does not have a current standard treatment and presents poor overall prognosis. Somatic mutations in the RAS pathway were reported as the likely driver for the majority of patients. We report a case of a 17-year-old male adolescent who was referred to the emergency department due to a severe anemia. Laboratory workup confirmed the anemia and revealed coagulation factor consumption and fibrinolysis. Chest-abdomen-pelvis computed tomography revealed an extensive cervical, mediastinal, abdominal and retroperitoneal \u201chematoma.\u201d During admission, progressive pancytopenia, and disseminated intravascular coagulation were observed, and the hypothesis of a tumor\/neoplastic etiology was considered. A thoracoscopy revealed a moderate hemorrhagic pleural effusion and a mediastinal mass resembling a \u201chemolymphangiomatosis\u201d malformation, which was biopsied. Histology displayed a lymphatic-venous malformation. The patient was presented at the multidisciplinary Vascular Anomalies Center and, due to the complex vascular anomaly diagnosis, oral sirolimus monotherapy was initiated. Four years later, the patient remains clinically stable, with stability of the lesion\u2019s dimensions and characteristics. A p.Q61R variant in the NRAS gene [NM_002524.4: c.182A&gt;G, p.(Gln61Arg)], with 5% allelic fraction and 1993x coverage was detected. In conjunction with clinical and pathological findings, it allowed KLA final diagnosis. This case reinforces the importance of a high index of clinical suspicion and highlights the need of referring these cases to referral to Vascular Anomalies Centers.<\/jats:p>","DOI":"10.1177\/23247096231166678","type":"journal-article","created":{"date-parts":[[2023,5,6]],"date-time":"2023-05-06T06:11:57Z","timestamp":1683353517000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Kaposiform Lymphangiomatosis in a Male Adolescent: A Clinical Challenge and the Role of Genetics"],"prefix":"10.1177","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5336-8760","authenticated-orcid":false,"given":"Joana","family":"Pereira-Nunes","sequence":"first","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o, Porto, Portugal"},{"name":"Porto University, Porto, Portugal"}]},{"given":"Miguel","family":"Madureira","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"Alexandra","family":"Dinis","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio de Coimbra, Coimbra, Portugal"}]},{"given":"Helena","family":"Barroca","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"Jorge","family":"Lima","sequence":"additional","affiliation":[{"name":"Porto University, Porto, Portugal"},{"name":"Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal"},{"name":"Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade da Universidade do Porto, Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4611-3329","authenticated-orcid":false,"given":"Maria","family":"do Bom-Sucesso","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio de S\u00e3o Jo\u00e3o, Porto, Portugal"},{"name":"Porto University, Porto, Portugal"}]}],"member":"179","published-online":{"date-parts":[[2023,5,6]]},"reference":[{"key":"bibr1-23247096231166678","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.10.013"},{"key":"bibr2-23247096231166678","doi-asserted-by":"publisher","DOI":"10.1513\/AnnalsATS.201308-287BC"},{"key":"bibr3-23247096231166678","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0390-0"},{"key":"bibr4-23247096231166678","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01893-3"},{"key":"bibr5-23247096231166678","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000001898"},{"key":"bibr6-23247096231166678","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1147-9"},{"issue":"1","key":"bibr7-23247096231166678","first-page":"86","volume":"27","author":"Triana P","year":"2017","journal-title":"Eur J Pediatr Surg"},{"key":"bibr8-23247096231166678","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2018-99-110989"},{"key":"bibr9-23247096231166678","volume":"58","author":"Radzikowska E","year":"2021","journal-title":"European Respiratory Journal"},{"key":"bibr10-23247096231166678","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.202012324"},{"key":"bibr11-23247096231166678","doi-asserted-by":"publisher","DOI":"10.1038\/s41390-022-01986-0."}],"container-title":["Journal of Investigative Medicine High Impact Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/23247096231166678","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/23247096231166678","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/23247096231166678","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T08:03:23Z","timestamp":1777449803000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/23247096231166678"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":11,"alternative-id":["10.1177\/23247096231166678"],"URL":"https:\/\/doi.org\/10.1177\/23247096231166678","relation":{},"ISSN":["2324-7096","2324-7096"],"issn-type":[{"value":"2324-7096","type":"print"},{"value":"2324-7096","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1]]},"article-number":"23247096231166678"}}