{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T18:06:10Z","timestamp":1792692370634,"version":"4.5.0"},"reference-count":33,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2023,1,5]],"date-time":"2023-01-05T00:00:00Z","timestamp":1672876800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Research Foundation of Korea","award":["NRF"],"award-info":[{"award-number":["NRF"]}]},{"name":"National Research Foundation of Korea","award":["NRF-2018R1C1B5083292"],"award-info":[{"award-number":["NRF-2018R1C1B5083292"]}]},{"DOI":"10.13039\/501100003725","name":"Ministry of Science and ICT","doi-asserted-by":"publisher","award":["NRF"],"award-info":[{"award-number":["NRF"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003725","name":"Ministry of Science and ICT","doi-asserted-by":"publisher","award":["NRF-2018R1C1B5083292"],"award-info":[{"award-number":["NRF-2018R1C1B5083292"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background: Chest computed tomography (CT) findings are important for identifying Birt\u2013Hogg\u2013Dube (BHD) syndrome. However, the predictive power of classical criteria for chest CT findings is weak. Here, we aimed to identify more specific chest CT findings necessitating genetic examination for FLCN gene mutations. Methods: From June 2016 to December 2017, we prospectively enrolled 21 patients with multiple bilateral and basally located lung cysts on chest CT with no other apparent cause, including cases with and without spontaneous primary pneumothorax. All enrolled patients underwent FLCN mutation testing for diagnosis confirmation. Results: BHD was diagnosed in 10 of 21 enrolled patients (47.6%). There were no differences in clinical features between the BHD and non-BHD groups. Maximal cyst diameter was significantly greater in the BHD group (mean \u00b1 standard deviation; 4.1 \u00b1 1.1 cm) than in the non-BHD group (1.6 \u00b1 0.9 cm; p &lt; 0.001). Diversity in cyst size was observed in 100.0% of BHD cases and 18.2% of non-BHD cases (p = 0.001). Morphological diversity was observed in 100.0% of BHD cases and 54.6% of non-BHD cases (p = 0.054). Areas under the receiver operating characteristic curves for predicting FLCN gene mutations were 0.955 and 0.909 for maximal cyst diameter and diversity in size, respectively. The optimal cut-off value for maximal diameter FLCN mutations prediction was 2.1 cm (sensitivity: 99%; specificity: 82%). Conclusions: Reliable chest CT features suggesting the need for FLCN gene mutations screening include variations in cyst size and the presence of cysts &gt; 2.1 cm in diameter, predominantly occurring in the bilateral basal lungs.<\/jats:p>","DOI":"10.3390\/diagnostics13020198","type":"journal-article","created":{"date-parts":[[2023,1,5]],"date-time":"2023-01-05T05:29:48Z","timestamp":1672896588000},"page":"198","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Characteristic Chest Computed Tomography Findings for Birt\u2013Hogg\u2013Dube Syndrome Indicating Requirement for Genetic Evaluation"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6114-2059","authenticated-orcid":false,"given":"Yong Jun","family":"Choi","sequence":"first","affiliation":[{"name":"Pulmonary Division, Department of Internal Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chul Hwan","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Radiology and the Research Institute of Radiological Science, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1862-1003","authenticated-orcid":false,"given":"Hye Jung","family":"Park","sequence":"additional","affiliation":[{"name":"Pulmonary Division, Department of Internal Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jae Min","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Radiology and the Research Institute of Radiological Science, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tae Hoon","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Radiology and the Research Institute of Radiological Science, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyung-A","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1388-2471","authenticated-orcid":false,"given":"Duk Hwan","family":"Moon","sequence":"additional","affiliation":[{"name":"Department of Thoracic Surgery, Yonsei University College of Medicine, Seoul 06273, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8998-9510","authenticated-orcid":false,"given":"Sungsoo","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Thoracic Surgery, Yonsei University College of Medicine, Seoul 06273, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sang Eun","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Yonsei University College of Medicine, Seoul 06273, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1525-1745","authenticated-orcid":false,"given":"Min Kwang","family":"Byun","sequence":"additional","affiliation":[{"name":"Pulmonary Division, Department of Internal Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,5]]},"reference":[{"key":"ref_1","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. 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