{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:03:25Z","timestamp":1756339405391,"version":"3.44.0"},"reference-count":10,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,5,7]]},"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:p>Hereditary haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare autosomal dominant disorder characterised by abnormal blood vessel formation, leading to recurrent epistaxis, mucocutaneous telangiectasias and arteriovenous malformations. The diagnosis is clinically based on the Curacao criteria with the triad of mucocutaneous and mucosal telangiectasia (often located on the lips), epistaxis and positive family history. In this case report, we present a woman in her early 50s with symptoms of frequent epistaxis, painful lesions on fingertips and subungual bleeding since childhood. An extensive workup was done, after which the diagnosis of HHT was established. The patient was treated with thalidomide in a dose of 100\u2009mg two times per day, with a reported decrease in episodes of epistaxis and improved general health.<\/jats:p>","DOI":"10.1136\/bcr-2025-265940","type":"journal-article","created":{"date-parts":[[2025,5,29]],"date-time":"2025-05-29T03:15:17Z","timestamp":1748488517000},"page":"e265940","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Hereditary haemorrhagic telangiectasia in skin of colour: a dermoscopic, histopathological and radiological approach"],"prefix":"10.1136","volume":"18","author":[{"given":"Shivangi","family":"Singh","sequence":"first","affiliation":[{"name":"Dermatology, All India Institute of Medical Sciences - Nagpur, Nagpur, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanjiv","family":"Choudhary","sequence":"additional","affiliation":[{"name":"Dermatology, All India Institute of Medical Sciences - Nagpur, Nagpur, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ankita","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Dermatology, All India Institute of Medical Sciences - Nagpur, Nagpur, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arjun R","family":"Prakashey","sequence":"additional","affiliation":[{"name":"Dermatology, All India Institute of Medical Sciences - Nagpur, Nagpur, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vishvadeep","family":"Khushoo","sequence":"additional","affiliation":[{"name":"Hematology, All India Institute of Medical Sciences - Nagpur, Nagpur, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,5,28]]},"reference":[{"key":"2025082702441694000_18.5.e265940.1","doi-asserted-by":"crossref","first-page":"888","DOI":"10.1182\/blood.2020008739","article-title":"Hereditary hemorrhagic telangiectasia: systemic therapies, guidelines, and an evolving standard of care","volume":"137","author":"Al-Samkari","year":"2021","journal-title":"Blood"},{"key":"2025082702441694000_18.5.e265940.2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.069013"},{"key":"2025082702441694000_18.5.e265940.3","doi-asserted-by":"crossref","DOI":"10.1172\/JCI176379","article-title":"Hereditary hemorrhagic telangiectasia: from signaling insights to therapeutic advances","volume":"134","author":"Al Tabosh","year":"2024","journal-title":"J Clin Invest"},{"key":"2025082702441694000_18.5.e265940.4","doi-asserted-by":"publisher","DOI":"10.7326\/M20-1443"},{"key":"2025082702441694000_18.5.e265940.5","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P"},{"key":"2025082702441694000_18.5.e265940.6","doi-asserted-by":"crossref","DOI":"10.3390\/jcm9113750","article-title":"The Role of Liver Imaging in Hereditary Hemorrhagic Telangiectasia","volume":"9","author":"Harwin","year":"2020","journal-title":"J Clin Med"},{"key":"2025082702441694000_18.5.e265940.7","doi-asserted-by":"crossref","first-page":"861","DOI":"10.4070\/kcj.2012.42.12.861","article-title":"Two cases of high output heart failure caused by hereditary hemorrhagic telangiectasia","volume":"42","author":"Cho","year":"2012","journal-title":"Korean Circ J"},{"key":"2025082702441694000_18.5.e265940.8","doi-asserted-by":"crossref","DOI":"10.3390\/jcm11092634","article-title":"Hereditary Hemorrhagic Telangiectasia and Arterio-Venous Malformations-From Diagnosis to Therapeutic Challenges","volume":"11","author":"Floria","year":"2022","journal-title":"J Clin Med"},{"key":"2025082702441694000_18.5.e265940.9","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1111\/ijd.17459","article-title":"Case series comparing the dermoscopic features of telangiectasias of systemic sclerosis versus hereditary hemorrhagic telangiectasia","volume":"64","author":"Kumar","year":"2025","journal-title":"Int J Dermatol"},{"key":"2025082702441694000_18.5.e265940.10","doi-asserted-by":"crossref","DOI":"10.3390\/jcm13185404","article-title":"The Role of Thalidomide and Its Analogs in the Treatment of Hereditary Hemorrhagic Telangiectasia: A Systematic Review","volume":"13","author":"Ugur","year":"2024","journal-title":"J Clin Med"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-265940","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T09:44:24Z","timestamp":1756287864000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-265940"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5]]},"references-count":10,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2025,5,28]]},"published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1136\/bcr-2025-265940"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-265940","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2025,5]]}}}