Birt-Hogg-Dubé Syndrome: Genetic and Clinical Insights

Birt–Hogg–Dubé (BHD) syndrome was a rare autosomal dominant disorder caused by mutations in the FLCN gene, leading to renal cysts and cancer, lung cysts, pneumothorax, and skin fibrofolliculomas. The Fourth Annual BHD meeting in 2012 highlighted the complex role of FLCN in mTOR signaling, with implications for treatment using mTOR inhibitors. Renal cancer, the most severe complication, affected 15% of patients by age 70, with MRI recommended for surveillance. Pulmonary manifestations included cysts and increased pneumothorax risk, while skin lesions appeared after age 20. Genetic and psychological counseling were essential for patients and at-risk relatives.