Asynchronous Bilateral Pneumothorax in a Patient With Birt-Hogg-Dubé Syndrome: A Case Report

Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant genetic disorder caused by mutations in the Folliculin (FLCN) gene and characterized by cutaneous fibrofolliculomas, multiple pulmonary cysts, spontaneous pneumothorax, and renal tumours. Pulmonary involvement is frequent and may represent the earliest manifestation of BHD. Due to its variable presentation, diagnosis is often delayed or missed. We report the case of a 38-year-old woman with a known history of multiple sclerosis who presented with recurrent, asynchronous, bilateral, spontaneous pneumothoraces over a 15-month period, including during pregnancy. Imaging revealed bilateral apical lung air-filled cysts. Management included conservative treatment, chest tube insertion, and ultimately bilateral video-assisted thoracoscopic surgery (VATS) bullectomy and apical pleurectomy. During a multidisciplinary evaluation during pregnancy, numerous white to skin-coloured waxy papules were noticed, prompting a dermatologic consultation. The diagnosis of BHD syndrome was confirmed via skin biopsy. Family screening identified the same condition in her mother. Renal imaging showed no abnormalities, but long-term surveillance was advised. This case highlights the potential for misdiagnosis or delayed diagnosis of BHD syndrome in patients presenting with spontaneous pneumothorax. A detailed family history, early recognition, and multidisciplinary evaluation are essential for early and appropriate management.