{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T16:43:53Z","timestamp":1771260233188,"version":"3.50.1"},"reference-count":8,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,6,24]],"date-time":"2020-06-24T00:00:00Z","timestamp":1592956800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Respirology Case Reports"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Birt\u2013Hogg\u2013Dub\u00e9 (BHD) syndrome is a rare, autosomal dominant disorder caused by a germline mutation in the folliculin gene (17p11.2). It is characterized by benign skin lesions, renal tumours, and pulmonary cysts, with pneumothoraces seen exceptionally rarely in patients younger than 40\u2009years. We report the case of a 15\u2010year\u2010old boy who presented with sudden onset left\u2010sided chest pain and acute dyspnoea secondary to a large left\u2010sided pneumothorax. This failed to resolve despite chest drain insertion and he required video\u2010assisted thoracoscopic surgical pleurodesis, which revealed macroscopic pulmonary cyst formation. Following this, he made a good recovery and a further high\u2010resolution computerized tomography (CT) scan of his chest identified multiple, small, subpleural parenchymal lung cysts that were not initially visible on prior imaging. Further questioning revealed a strong family history of spontaneous pneumothoraces and additional genomic sequencing confirmed a diagnosis of BHD syndrome. We highlight the diagnostic, management, and surveillance challenges for this rare syndrome.<\/jats:p>","DOI":"10.1002\/rcr2.610","type":"journal-article","created":{"date-parts":[[2020,6,24]],"date-time":"2020-06-24T10:27:13Z","timestamp":1592994433000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<scp>Birt\u2013Hogg\u2013Dub\u00e9<\/scp> syndrome presenting with macroscopic pulmonary cyst formation in a 15\u2010year\u2010old"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8998-7141","authenticated-orcid":false,"given":"Luke","family":"Ardolino","sequence":"first","affiliation":[{"name":"Department of Medical Oncology The Kinghorn Cancer Centre, St Vincent's Hospital  Sydney NSW Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Silverstone","sequence":"additional","affiliation":[{"name":"Department of Radiology St Vincent's Hospital  Sydney NSW Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Varjavandi","sequence":"additional","affiliation":[{"name":"Department of Thoracic Surgery Sydney Children's Hospital  Sydney NSW Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah","family":"Yates","sequence":"additional","affiliation":[{"name":"Department of Thoracic Medicine St Vincent's Hospital  Sydney NSW Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,6,24]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrurol.2015.206"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0209504"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-013-9660-9"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e3182475240"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2015.0215"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4362.1996.tb03642.x"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/thx.2010.136986"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-013-9657-4"}],"container-title":["Respirology Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Frcr2.610","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/rcr2.610","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/rcr2.610","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/rcr2.610","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T17:44:33Z","timestamp":1693935873000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/rcr2.610"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,24]]},"references-count":8,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,8]]}},"alternative-id":["10.1002\/rcr2.610"],"URL":"https:\/\/doi.org\/10.1002\/rcr2.610","archive":["Portico"],"relation":{},"ISSN":["2051-3380","2051-3380"],"issn-type":[{"value":"2051-3380","type":"print"},{"value":"2051-3380","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6,24]]},"assertion":[{"value":"2020-04-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e00610"}}