{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T18:06:14Z","timestamp":1792692374466,"version":"4.5.0"},"reference-count":30,"publisher":"Public Library of Science (PLoS)","issue":"6","license":[{"start":{"date-parts":[[2022,6,6]],"date-time":"2022-06-06T00:00:00Z","timestamp":1654473600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:sec id=\"sec001\">\n<jats:title>Background<\/jats:title>\n<jats:p>Birt\u2013Hogg\u2013Dub\u00e9 (BHD) syndrome is an ultrarare lung disease with unclear prevalence and incidence. Our study aimed to identify the epidemiological and clinical features of BHD syndrome by using nationwide claims data from the Korean Health Insurance Review and Assessment service.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec002\">\n<jats:title>Methods<\/jats:title>\n<jats:p>Patients with BHD syndrome who had the following criteria were included: 1) tested for folliculin gene mutation, and 2) had at least one of the conditions: other specified malformation syndromes, fibrofolliculoma, acrochordon, lung cyst, cancer, and pneumothorax based on International Classification of Disease\u201310 code.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec003\">\n<jats:title>Results<\/jats:title>\n<jats:p>We found 26 patients with BHD syndrome from 2017 to 2019. The prevalence of BHD syndrome was 5.67 per 10<jats:sup>7<\/jats:sup> population, with no peak age. Among incidence cases, the median age of diagnosis was 51 years, with slightly more females than males (n = 15, 57.7%). Over half of the patients (n = 14, 53.8%) experienced pneumothorax, and 10 (38.5%) developed malignant neoplasm within the clinical course.<\/jats:p>\n<\/jats:sec>\n<jats:sec id=\"sec004\">\n<jats:title>Conclusions<\/jats:title>\n<jats:p>The prevalence of BHD syndrome in Korea is extremely low. However, affected patients manifest several comorbidities, including malignant neoplasm and repetitive pneumothorax.<\/jats:p>\n<\/jats:sec>","DOI":"10.1371\/journal.pone.0269358","type":"journal-article","created":{"date-parts":[[2022,6,6]],"date-time":"2022-06-06T17:24:38Z","timestamp":1654536278000},"page":"e0269358","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":21,"title":["Epidemiology and clinical features of Birt-Hogg-Dub\u00e9 syndrome: A nationwide population-based study in South Korea"],"prefix":"10.1371","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5523-5144","authenticated-orcid":true,"given":"Hyung Jun","family":"Park","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3307-2970","authenticated-orcid":true,"given":"Ye-Jee","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min-Ju","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3154-4858","authenticated-orcid":true,"given":"Ho Cheol","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2022,6,6]]},"reference":[{"key":"pone.0269358.ref001","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1183\/16000617.0042-2020","article-title":"Birt\u2013hogg\u2013dub\u00e9 syndrome","volume":"29","author":"C Daccord","year":"2020","journal-title":"Eur Respir Rev"},{"key":"pone.0269358.ref002","doi-asserted-by":"crossref","first-page":"5239","DOI":"10.1038\/sj.onc.1204703","article-title":"Birt-Hogg-Dub\u00e9 syndrome: mapping of a novel hereditary neoplasia gene to chromosome 17p12-q11.2","volume":"20","author":"SK Khoo","year":"2001","journal-title":"Oncogene"},{"key":"pone.0269358.ref003","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1086\/323744","article-title":"Birt-Hogg-Dub\u00e9 syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2","volume":"69","author":"LS Schmidt","year":"2001","journal-title":"Am J Hum Genet"},{"key":"pone.0269358.ref004","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-Dub\u00e9 syndrome","volume":"76","author":"LS Schmidt","year":"2005","journal-title":"Am J Hum Genet"},{"key":"pone.0269358.ref005","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/sj.jid.5700959","article-title":"Birt-Hogg-Dub\u00e9 syndrome: clinical and genetic studies of 20 families","volume":"128","author":"EM Leter","year":"2008","journal-title":"J Invest Dermatol"},{"key":"pone.0269358.ref006","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1007\/s10689-012-9593-8","article-title":"A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; 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