Birt-hogg-dubé syndrome

Birt-Hogg-Dubé Syndrome is a rare genetic disease that causes skin lesions, kidney tumors and cysts in the lungs.

The causes of Birt-Hogg-Dubé Syndrome are mutations in a gene on chromosome 17, called FLCN, which loses its function as a tumor suppressor and leads to the appearance of tumors in individuals.

Birt-Hogg-Dubé Syndrome has no cure and its treatment consists of removing the tumors and preventing their appearance.

Pictures of Birt-Hogg-Dubé Syndrome

In the photos you can identify the skin lesions that appear in Birt-Hogg-Dubé Syndrome, resulting in small benign tumors that form around the hair.

Symptoms of Birt-Hogg-Dubé Syndrome

Symptoms of Birt-Hogg-Dubé Syndrome can be:

Benign tumors on the skin, mainly face, neck and chest; Renal cysts; Benign tumors in the kidneys or kidney cancer; Lung cysts; Accumulation of air between the lungs and the pleura, leading to the appearance of pneumothorax; Nodes in the thyroid.

Individuals with Birt-Hogg-Dubé Syndrome are more likely to develop cancer in other parts of the body such as the breast, amygdala, lung or intestine.

The lesions that appear on the skin are called fibrofolliculomas and consist of small pimples that result from the accumulation of collagen and fibers around the hair. Generally, this sign on the skin of Birt-Hogg-Dubé Syndrome appears between 30 and 40 years of age.

The diagnosis of Birt-Hogg-Dubé Syndrome is achieved by identifying the symptoms of the disease and genetic testing to identify a mutation in the FLNC gene.

Treatment of Birt-Hogg-Dubé Syndrome

The treatment of Birt-Hogg-Dubé Syndrome does not cure the disease, but it does help to reduce its symptoms and consequences for the lives of individuals.

Benign tumors that appear on the skin can be surgically removed, dermo-abrasion, laser or skin wear.

Pulmonary cysts or kidney tumors must be prevented by computed tomography, magnetic resonance imaging or ultrasound. If the presence of cysts or tumors are detected in the exams, they must be surgically removed.

In cases where kidney cancer develops, treatment should consist of surgery, chemotherapy or radiation therapy.