What is the prevalence of Birt-Hogg-Dubé syndrome?
How many people does Birt-Hogg-Dubé syndrome affect? Does it have the same prevalence in men and women? And in the different countries?
Birt-Hogg-Dubé syndrome is a rare genetic disorder characterized by the development of benign skin tumors, lung cysts, and an increased risk of kidney cancer. The exact prevalence of this syndrome is not well-established, but it is estimated to affect approximately 1 in 200,000 to 1 in 300,000 individuals worldwide. Due to its rarity, Birt-Hogg-Dubé syndrome often goes undiagnosed or misdiagnosed. Early recognition and appropriate management are crucial for individuals with this syndrome to prevent complications and ensure optimal care.
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.
