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Birt-Hogg-Dubé Syndrome-A Rare Cause of Recurrent Pneumothoraces in a Midshipman
Timothy K Farrell1, Melissa Burns1, Benjamin L Scott1
1General Surgery Residency Program, Walter Reed National Military Medical Center, Bethesda, MD, 20889, United States.
Abstract:
Birt-Hogg-Dubé Syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the FLCN gene, leading to tumor formation in the skin and kidneys, as well as cystic lung disease predisposing to spontaneous pneumothoraces. These pneumothoraces often recur despite surgical intervention. We present a case of a 20-year-old male of East Asian descent with no significant medical history who developed recurrent spontaneous pneumothoraces despite undergoing video-assisted thoracoscopic surgery with pleurodesis. After undergoing the procedure, he was noted to have a recurrent pneumothorax at his postoperative visit. This required the placement of a surgical chest tube and further evaluation at a specialized lung center. This case underscores the importance of considering BHD in young, otherwise healthy patients with recurrent pneumothoraces, particularly in those of East Asian descent, who may initially lack cutaneous manifestations. Given the high recurrence rate of pneumothorax in BHD, early suspicion and genetic confirmation are critical to ensuring appropriate long-term surveillance, especially for renal malignancies. Additionally, this case highlights the challenges in military medicine, where conditions like BHD may impact fitness for duty. Increased awareness and early diagnosis can improve management strategies and patient outcomes.
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