Birt-Hogg-Dubé syndrome presenting as recurrent secondary spontaneous pneumothorax: VATS

Birt-Hogg-Dubé syndrome is a rare autosomal dominant inherited condition, occurring due to mutations in folliculin gene and is characterized by skin lesions, renal tumors, and pulmonary cysts, which can lead to recurrent pneumothorax. The present report discusses the case of a 35-year-old male presenting with a history of left-sided recurrent pneumothorax, and diagnosed with Birt-Hogg-Dubé syndrome after screening for mutation in folliculin gene. The patient experienced two episodes of spontaneous pneumothorax, both of which were managed by intercostal drainage. However, the third episode was managed using percutaneous needle thoracocentesis, and the patient was subsequently referred for surgical management. Imaging revealed presence of bilateral pulmonary cysts and left-sided pneumothorax. Video-assisted thoracoscopic surgery identified multiple bullae and blebs, which were managed by multiple wedge resections followed by complete parietal pleurectomy to prevent recurrence. Postoperatively, the patient showed complete resolution of pneumothorax and 1 month x-ray showed complete chest expansion. The present case underscores the importance of video-assisted thoracoscopic surgery in management of Birt-Hogg-Dubé syndrome patients presenting with recurrent pneumothorax.