{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T13:40:16Z","timestamp":1753882816758,"version":"3.41.2"},"reference-count":13,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["SAGE Open Medical Case Reports"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:sec><jats:title>Background:<\/jats:title><jats:p> Hereditary haemorrhagic telangiectasia is an autosomal dominant genetic disorder characterized by abnormalities in blood vessel formation. The clinical manifestations of patients affected with hereditary haemorrhagic telangiectasia include mucocutaneous telangiectasias and visceral arteriovenous malformations. <\/jats:p><\/jats:sec><jats:sec><jats:title>Case Summary:<\/jats:title><jats:p> We report the case of a 30-year-old female diagnosed with hereditary haemorrhagic telangiectasia presenting with the classic triad of recurrent epistaxis, mucocutaneous telangiectasias and family history of hereditary haemorrhagic telangiectasia with activin receptor-like kinase 1 mutation. Upon skin examination, she was noted to have telangiectasias under left naris, inner lower lip and surface of the tongue, and a vascular malformation on the right forearm. <\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion:<\/jats:title><jats:p> Although the skin involvement and epistaxis may be mild symptoms and signs of hereditary haemorrhagic telangiectasia, timely recognition of these can ensure vigilant monitoring of potential severe complications from cerebral and pulmonary visceral arteriovenous malformations. <\/jats:p><\/jats:sec>","DOI":"10.1177\/2050313x211003076","type":"journal-article","created":{"date-parts":[[2021,8,6]],"date-time":"2021-08-06T09:59:03Z","timestamp":1628243943000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Hereditary haemorrhagic telangiectasia: A case report"],"prefix":"10.1177","volume":"9","author":[{"given":"Asfandyar","family":"Mufti","sequence":"first","affiliation":[{"name":"Division of Dermatology, University of Toronto, Toronto, ON, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muskaan","family":"Sachdeva","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Toronto, Toronto, ON, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalad","family":"Maliyar","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Toronto, Toronto, ON, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marissa","family":"Joseph","sequence":"additional","affiliation":[{"name":"Women\u2019s College Hospital, University of Toronto, Toronto, ON, Canada"},{"name":"Section of Dermatology, Division of Pediatric Medicine, The Hospital for Sick Children, Toronto, ON, Canada"},{"name":"Department of Pediatrics, University of Toronto, Toronto, ON, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2021,8,6]]},"reference":[{"key":"bibr1-2050313X211003076","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199510053331407"},{"key":"bibr2-2050313X211003076","doi-asserted-by":"publisher","DOI":"10.1016\/j.ad.2018.11.007"},{"key":"bibr3-2050313X211003076","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2008.01774.x"},{"key":"bibr4-2050313X211003076","doi-asserted-by":"publisher","DOI":"10.1080\/14764170601091687"},{"key":"bibr5-2050313X211003076","unstructured":"McDonald J, Pyeritz RE. Hereditary hemorrhagic telangiectasia. In: Adam MP, Ardinger HH, Pagon RA, et al. (eds) GeneReviews\u00ae. Seattle, WA: University of Washington, 1993, http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1351\/ (accessed 18 March 2020)."},{"key":"bibr6-2050313X211003076","unstructured":"Macri A, Wilson AM, Shafaat O, et al. Osler-Weber-Rendu disease (Hereditary Hemorrhagic Telangiectasia, HHT). In: StatPearls. Treasure Island, FL: StatPearls Publishing, 2020, http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK482361\/ (accessed 18 March 2020)."},{"key":"bibr7-2050313X211003076","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P"},{"key":"bibr8-2050313X211003076","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2005.01345.x"},{"key":"bibr9-2050313X211003076","unstructured":"Report of the National Commission on Orphan Disease. Executive summary and recommendations. Washington, DC: US Department Of Health And Human Services, 1989."},{"key":"bibr10-2050313X211003076","doi-asserted-by":"publisher","DOI":"10.1007\/s10620-017-4719-3"},{"key":"bibr11-2050313X211003076","doi-asserted-by":"publisher","DOI":"10.1002\/lary.23893"},{"key":"bibr12-2050313X211003076","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0076516"},{"key":"bibr13-2050313X211003076","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.042606"}],"container-title":["SAGE Open Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X211003076","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2050313X211003076","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X211003076","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,2]],"date-time":"2025-03-02T22:00:51Z","timestamp":1740952851000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2050313X211003076"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1]]},"references-count":13,"alternative-id":["10.1177\/2050313X211003076"],"URL":"https:\/\/doi.org\/10.1177\/2050313x211003076","relation":{},"ISSN":["2050-313X","2050-313X"],"issn-type":[{"type":"print","value":"2050-313X"},{"type":"electronic","value":"2050-313X"}],"subject":[],"published":{"date-parts":[[2021,1]]},"article-number":"2050313X211003076"}}