Birt-Hogg-Dubé syndrome
Birt-Hogg-Dubé syndrome is a rare genetic disorder caused by mutations in the FLCN gene. It is characterized by the development of skin tumors called fibrofolliculomas, lung cysts, and an increased risk of certain types of kidney cancer. The condition is inherited in an autosomal dominant pattern, meaning one copy of the mutated gene from an affected parent can lead to the syndrome in their offspring.
Individuals with Birt-Hogg-Dubé syndrome may experience respiratory issues due to lung cysts, which can lead to spontaneous pneumothorax. Regular monitoring and management of skin lesions and kidney health are essential for those affected. Early detection and intervention can help improve outcomes.