{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T20:38:14Z","timestamp":1786653494041,"version":"build-2736575974"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>Primary spontaneous pneumothorax usually occurs as a sporadic event, but may be clustered in certain families with an underlying inherited disorder. Birt-Hogg-Dub\u03b9 (BHD) syndrome is a rare autosomal dominant disease accounting for familial pneumothorax. BHD syndrome, caused by mutation of the folliculin gene, is characterized by skin fibrofolliculoma, pulmonary cysts, pneumothorax, and renal cancer. We describe a BHD-affected Taiwanese family with clinical and genetic study. A rare mutation of the folliculin gene was detected in the patient and members with pulmonary cysts or pneumothorax, but no skin or renal lesions were found. This mutation was reported in a Taiwanese family and might indicate a pneumothorax-predominant phenotype. Isolated pneumothorax is an uncommon initial presentation of BHD syndrome. Family history should be carefully reviewed when managing a patient with pneumothorax.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/0022-3859.123169","type":"journal-article","created":{"date-parts":[[2013,12,17]],"date-time":"2013-12-17T04:35:24Z","timestamp":1387254924000},"page":"321-323","source":"Crossref","is-referenced-by-count":7,"title":["Isolated familial pneumothorax in a Taiwanese family with Birt-Hogg-Dub\u00e9 syndrome"],"prefix":"10.4103","volume":"59","author":[{"given":"CY","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HC","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JS","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CJ","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-16-20240205","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1056\/NEJM200003233421207","article-title":"Spontaneous pneumothorax","volume":"342","author":"Sahn","year":"2000","journal-title":"N Engl J Med"},{"key":"R2-16-20240205","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1016\/S1470-2045(09)70188-3","article-title":"Birt-Hogg-Dub\u00e9syndrome: Diagnosis and management","volume":"10","author":"Menko","year":"2009","journal-title":"Lancet Oncol"},{"key":"R3-16-20240205","doi-asserted-by":"crossref","first-page":"1674","DOI":"10.1001\/archderm.1977.01640120042005","article-title":"Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons","volume":"113","author":"Birt","year":"1977","journal-title":"Arch Dermatol"},{"key":"R4-16-20240205","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1086\/428455","article-title":"A 4-bp deletion in the Birt-Hogg-Dub\u00e9 Gene FLCN causes dominantly inherited spontaneous pneumothorax","volume":"76","author":"Painter","year":"2005","journal-title":"Am J Hum Genet"},{"key":"R5-16-20240205","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1164\/rccm.200501-143OC","article-title":"Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults","volume":"172","author":"Graham","year":"2005","journal-title":"Am J Respir Crit Care Med"},{"key":"R6-16-20240205","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1164\/rccm.200610-1483OC","article-title":"Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dube syndrome","volume":"175","author":"Toro","year":"2007","journal-title":"Am J Respir Crit Care Med"},{"key":"R7-16-20240205","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1086\/430842","article-title":"Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome","volume":"76","author":"Schmidt","year":"2005","journal-title":"Am J Hum Genet"},{"key":"R8-16-20240205","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1136\/jclinpath-2012-201200","article-title":"Birt-Hogg-Dube syndrome: Clinicopathological features of the lung","volume":"66","author":"Furuya","year":"2013","journal-title":"J Clin Pathol"},{"key":"R9-16-20240205","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1097\/PAS.0b013e3182475240","article-title":"Pulmonary cysts of Birt-Hogg-Dub\u00e9 syndrome: A clinicopathologic and immunohistochemical study of 9 families","volume":"36","author":"Furuya","year":"2012","journal-title":"Am J Surg Pathol"},{"key":"R10-16-20240205","doi-asserted-by":"crossref","first-page":"1501","DOI":"10.6061\/clinics\/2012(12)25","article-title":"Birt-Hogg-Dub\u00e9 syndrome: Metalloproteinase activity and response to doxycycline","volume":"67","author":"Pimenta","year":"2012","journal-title":"Clinics (Sao Paulo"}],"container-title":["Journal of Postgraduate Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00005257-201359040-00016","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:38:29Z","timestamp":1786649909000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00005257-201359040-00016"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013]]}},"URL":"https:\/\/doi.org\/10.4103\/0022-3859.123169","relation":{},"ISSN":["0022-3859"],"issn-type":[{"value":"0022-3859","type":"print"}],"subject":[],"published":{"date-parts":[[2013]]}}}