{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T20:57:41Z","timestamp":1760821061744,"version":"3.40.5"},"reference-count":37,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Respiration"],"published-print":{"date-parts":[[2019]]},"abstract":"<jats:p>Background: Birt-Hogg-Dub\u00e9 syndrome (BHDS) is a rare autosomal-dominant inherited disorder characterized by inactivation of the gene Folliculin (FLCN), pulmonary cysts with recurrent spontaneous pneumothorax, dermatological lesions, and an increased risk of developing renal malignancies. Objectives: We aimed to investigate the real prevalence\u00a0of BHDS and its prevalence among patients with a familial history of pneumothorax. Methods: From July 2014 to December 2016, we consecutively studied all patients with spontaneous pneumothorax and a positive family history for the same condition referring to our Institution. The suspicious cases underwent genetic analysis of the BHDS-causative gene FLCN. FLCN-positive cases were further evaluated with routine blood tests, chest radiography, chest CT, abdominal MRI, and dermatological evaluation. Results: Among 114 patients admitted with spontaneous pneumothorax, 7 patients had a family history of pneumothorax, and 6\/7 (85.7%) patients had positive genetic test for FLCN as well as 7\/13 family members. Pulmonary cysts were found in all patients with a FLCN-positive genetic test. Most patients (10\/13, 76.9%) had tiny pulmonary cysts less than 1 cm in diameter. The vast majority of cysts were intraparenchymal (12\/13, 92.3%) and located in lower lobes. Dermatological lesions were found in 7\/13 (54%) patients, renal cysts in 4\/13 (31%) patients, and renal cancer in 1 (1\/13, 7.7%) patient. Conclusions: Although BHDS is considered a rare disease, BHDS underlies spontaneous pneumothorax more often than usually believed, especially whenever a family history of pneumothorax is present. Diagnosis of BHDS is essential to start monitoring patients for the risk of developing renal malignancies.<\/jats:p>","DOI":"10.1159\/000498973","type":"journal-article","created":{"date-parts":[[2019,7,2]],"date-time":"2019-07-02T21:00:38Z","timestamp":1562101238000},"page":"125-132","source":"Crossref","is-referenced-by-count":13,"title":["The Relevance of Family History Taking in the Detection and Management of Birt-Hogg-Dub\u00e9 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