{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:13:00Z","timestamp":1745467980688,"version":"3.40.4"},"reference-count":8,"publisher":"Oxford University Press (OUP)","issue":"5-6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,4,23]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Birt-Hogg-Dube (BHD) is a rare cause of spontaneous pneumothorax caused by an autosomal-dominant mutation in the folliculin gene (FLCN). The syndrome can have widely variable presentations and is associated with recurrent pneumothorax, cystic lung disease, characteristic skin lesions, and renal tumors. Lung cysts have been described in over 80% of cases, and roughly 24 to 38% of patients have at least one pneumothorax and over 75% have multiple pneumothoraces. One of the defining features of this condition is fibrofolliculomas, which are benign tumors of the hair follicle. Given its rarity, the diagnosis is often missed and\/or delayed for many years. This delay has clinical implications as screening for renal cancer is recommended in both the patient and affected family members. Increased recognition of this syndrome can lead to more patients receiving definitive treatment for their first pneumothorax, and being screened for renal cancers. We present a rare case of Birt-Hogg-Dub\u00e9 with a never before described mutation in the FLCN gene, leading to spontaneous pneumothorax in an active duty male soldier.<\/jats:p>","DOI":"10.1093\/milmed\/usae282","type":"journal-article","created":{"date-parts":[[2024,6,3]],"date-time":"2024-06-03T20:44:14Z","timestamp":1717447454000},"page":"e1288-e1291","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Mutation as a Rare Cause of Pneumothorax in a Soldier"],"prefix":"10.1093","volume":"190","author":[{"given":"Christopher G","family":"Shank","sequence":"first","affiliation":[{"name":"Department of Pulmonology, Walter Reed National Military Medical Center , Bethesda, MD 20889,","place":["USA"]},{"name":"School of Medicine, Uniformed Services University of the Health Sciences , Bethesda, MD 20814,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arthur W","family":"Holtzclaw","sequence":"additional","affiliation":[{"name":"Department of Pulmonology, Walter Reed National Military Medical Center , Bethesda, MD 20889,","place":["USA"]},{"name":"School of Medicine, Uniformed Services University of the Health Sciences , Bethesda, MD 20814,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra P","family":"Rosenberg","sequence":"additional","affiliation":[{"name":"Department of Pulmonology, Walter Reed National Military Medical Center , Bethesda, MD 20889,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clarence C","family":"Ducummon III","sequence":"additional","affiliation":[{"name":"Outpatient Clinic, Aberdeen Veterinary Treatment Facility , Aberdeen, MD 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