Birt-Hogg-Dubé syndrome synonyms:
Birt-Hogg-Dubé syndrome, also known as BHD syndrome, is a rare genetic disorder characterized by the development of benign skin tumors, lung cysts, and an increased risk of certain types of kidney cancer. While it is commonly referred to as Birt-Hogg-Dubé syndrome, there are no widely recognized synonyms for this specific condition.
BHD syndrome is caused by mutations in the FLCN gene, which is responsible for producing a protein called folliculin. This protein plays a role in regulating cell growth and division. When the FLCN gene is mutated, it can lead to the development of various symptoms associated with Birt-Hogg-Dubé syndrome.
Individuals with Birt-Hogg-Dubé syndrome may develop multiple skin tumors called fibrofolliculomas, which typically appear on the face, neck, and upper body. These tumors are usually harmless but can cause cosmetic concerns. Lung cysts are another common feature of the syndrome, which can lead to spontaneous pneumothorax (collapsed lung) in some cases.
Kidney cancer is a significant concern for individuals with Birt-Hogg-Dubé syndrome. They have an increased risk of developing various types of kidney tumors, including chromophobe renal cell carcinoma, oncocytoma, and hybrid oncocytic/chromophobe tumors. Regular monitoring and early detection are crucial for managing this risk.
While there are no specific synonyms for Birt-Hogg-Dubé syndrome, it is important to note that it is a distinct condition with its own set of symptoms and genetic basis. Proper diagnosis and management of the syndrome are essential for individuals and their families to ensure appropriate medical care and surveillance.