Birt-Hogg-Dubé Syndrome: Expert Review on Pathophysiology, Imaging, and Clinical Management (FLCN Gene, Renal Cancer, and Lung Cysts Explained)
Keywords: Birt-Hogg-Dubé syndrome, BHD syndrome, FLCN gene, renal cell carcinoma, fibrofolliculoma, lung cysts, spontaneous pneumothorax, hereditary renal cancer, rare genetic disorder Introduction Birt-Hogg-Dubé Syndrome (BHD) is a rare autosomal dominant hereditary disorder characterized by benign skin tumors ( fibrofolliculomas ), multiple pulmonary cysts leading to spontaneous pneumothorax, and an increased risk of renal neoplasms. First described by Birt, Hogg, and Dubé in 1977, BHD syndrome is caused by pathogenic variants in the FLCN (Folliculin) gene located on chromosome 17p11.2. Despite being classified as a rare disease, the true prevalence is likely underestimated due to its subtle and heterogeneous manifestations. This article provides a comprehensive and updated review of Birt-Hogg-Dubé syndrome , based on the latest international guidelines and recent peer-reviewed literature, including its pathophysiology, epidemiology, clinical presentation, imaging featur...