{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T02:00:37Z","timestamp":1790301637912,"version":"4.1.0"},"reference-count":5,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T00:00:00Z","timestamp":1788825600000},"content-version":"vor","delay-in-days":7,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Respirology Case Reports"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Birt\u2010Hogg\u2010Dub\u00e9 (BHD) syndrome is a rare autosomal dominant disorder characterized by a classic triad of cutaneous fibrofolliculomas, bilateral pulmonary cysts and renal tumours. Pulmonary manifestations may occur in isolation, posing a significant diagnostic challenge. We report a 50\u2010year\u2010old non\u2010smoking woman with recurrent pneumothorax referred to our pulmonology clinic for dyspnoea on exertion. Chest CT revealed multiple bilateral pulmonary cysts with lower\u2010lobe predominance. Review of prior wedge resection specimens showed subpleural and parenchymal cysts lined by flattened epithelium. Negative immunohistochemical staining for HMB\u201045 and GPNMB excluded lymphangioleiomyomatosis. Given the characteristic cyst pattern, germline whole\u2010exome sequencing identified a pathogenic heterozygous FLCN frameshift variant, confirming the diagnosis. Because of the lifetime risk of renal malignancy, early recognition is important and genetic testing is recommended when BHD is suspected.<\/jats:p>","DOI":"10.1002\/rcr2.70703","type":"journal-article","created":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T06:15:32Z","timestamp":1788934532000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["An Underrecognized Cause of Recurrent Spontaneous Pneumothorax: Birt\u2010Hogg\u2010Dub\u00e9 Syndrome With Isolated Pulmonary Manifestation"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-3059-5825","authenticated-orcid":false,"given":"Chia\u2010Ni","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Chest Medicine Taipei Veterans General Hospital  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8637-2937","authenticated-orcid":false,"given":"Hsiao\u2010Chin","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Chest Medicine Taipei Veterans General Hospital  Taipei Taiwan"},{"name":"Department of Medical Education Taipei Veterans General Hospital  Taipei Taiwan"},{"name":"School of Medicine National Yang Ming Chiao Tung University  Taipei Taiwan"},{"name":"Institute of Microbiology and Immunology National Yang Ming Chiao Tung University  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi\u2010Chen","family":"Yeh","sequence":"additional","affiliation":[{"name":"School of Medicine National Yang Ming Chiao Tung University  Taipei Taiwan"},{"name":"Department of Pathology and Laboratory Medicine Taipei Veterans General Hospital  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,8]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/thorax-2024-221738"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-024-01671-2"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-024-03360-1"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI194300"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.chest.2024.08.008"}],"container-title":["Respirology Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/rcr2.70703","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/rcr2.70703","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/rcr2.70703","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T01:55:16Z","timestamp":1790301316000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/rcr2.70703"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":5,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["10.1002\/rcr2.70703"],"URL":"https:\/\/doi.org\/10.1002\/rcr2.70703","archive":["Portico"],"relation":{},"ISSN":["2051-3380","2051-3380"],"issn-type":[{"value":"2051-3380","type":"print"},{"value":"2051-3380","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"2026-06-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-19","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-08","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70703"}}