BirtHoggDubé

Birt Hogg Dubé is a rare autosomal dominant genetic disorder that affects the skin, lungs, and kidneys. It is caused by mutations in the FLCN gene, which provides instructions for making a protein called folliculin. This protein is thought to play a role in cell growth and development.

The disorder is characterized by a variety of symptoms. Skin manifestations include fibrofolliculomas, which are benign skin tumors that typically appear on the face and neck. These are usually small, flesh-colored bumps that can be mistaken for acne. Lung abnormalities are common and can include spontaneous pneumothorax (collapsed lung), pulmonary cysts, and emphysema. Kidney problems can also occur, such as renal cysts and an increased risk of developing renal cell carcinoma, a type of kidney cancer.

The genetic basis of Birt Hogg Dubé means that individuals with a family history of the condition have a higher chance of inheriting it. Diagnosis is typically made based on a combination of clinical symptoms, family history, and genetic testing to identify mutations in the FLCN gene.

There is no cure for Birt Hogg Dubé, but management focuses on monitoring and treating the specific symptoms. Regular screening for lung and kidney issues is important. Treatment for pneumothorax involves procedures to re-inflate the lung. Early detection and management of kidney tumors are crucial for better outcomes. Genetic counseling is also recommended for affected individuals and their families.