Birt-Hogg-Dubé syndrome (BHD) is a rare genetic disorder characterized by the development of benign skin tumors, lung cysts, and an increased risk of kidney cancer. The prevalence of BHD is estimated to be approximately 1 in 200,000 individuals worldwide, making it a relatively uncommon condition.
The syndrome is caused by mutations in the Folliculin (FLCN) gene, which is responsible for regulating cell growth and division. These mutations lead to the development of multiple fibrofolliculomas (small, skin-colored papules) on the face, neck, and upper body. Additionally, individuals with BHD may develop lung cysts, which can cause spontaneous pneumothorax (collapsed lung), and have an increased risk of developing various types of kidney tumors.
Due to its rarity, BHD is often underdiagnosed or misdiagnosed. Genetic testing is necessary to confirm the presence of FLCN mutations and establish a definitive diagnosis. Early detection and management of BHD-related complications are crucial to ensure optimal patient outcomes.