Recurrent spontaneous pneumothorax and surgical management in Birt–Hogg–Dubé syndrome: a case report

Introduction: Birt–Hogg–Dubé (BHD) syndrome is a rare autosomal-dominant disorder caused by a FLCN gene mutation, predisposing individuals to renal cancer, pulmonary cysts, and spontaneous pneumothorax. This report highlights the surgical management of recurrent pneumothorax in a patient with BHD. Presentation of case: A male in his 30s with a recent BHD diagnosis presented with sharp left-sided chest pain. He had a history of pneumothorax since age 14. Imaging confirmed a moderate left-sided pneumothorax with underlying lung cysts. After chest drain insertion, he underwent a successful video-assisted thoracoscopic (VATS) bullectomy and talc pleurodesis. His recovery was uncomplicated, with discharge on day 3. Discussion: BHD syndrome significantly increases the lifetime risk of spontaneous pneumothorax due to the rupture of characteristic pulmonary cysts. Management is primarily surgical to prevent recurrence, with VATS bullectomy and pleurodesis being the preferred approach due to its efficacy and minimal invasiveness. This case illustrates the typical early onset and recurrent nature of pneumothoraces in patients with a positive family history. Conclusion: This case underscores the critical importance of considering BHD syndrome in the differential diagnosis for patients, especially younger individuals, with spontaneous or recurrent pneumothorax. Early recognition facilitates appropriate surgical intervention and enables essential screening for associated renal cell carcinoma.