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 chromosome 17 gene, 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 in the removal of tumors and prevention of the onset of tumors.
Pictures of Birt-Hogg-Dubé Syndrome
In the photos you can identify the skin lesions that arise in the Birt-Hogg-Dubé Syndrome, resulting in small benign tumors that form around the hairs.
Symptoms of Birt-Hogg-Dubé Syndrome
Symptoms of Birt-Hogg-Dubé Syndrome may include:
- Benign tumors in the skin, especially the face, neck and thorax;
- Renal cysts;
- Benign tumors in the kidney or kidney cancer;
- Pulmonary cysts;
- Accumulation of air between the lungs and the pleura, leading to the appearance of pneumothorax;
- Nodules in the thyroid.
Individuals with Birt-Hogg-Dubé Syndrome are more likely to develop cancer elsewhere in 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 hairs. Generally, this sign on the skin of the Birt-Hogg-Dubé Syndrome appears between the 30 and 40 years of life.
The diagnosis of Birt-Hogg-Dubé Syndrome is achieved by identifying the symptoms of the disease and genetic testing to identify mutation in the FLNC gene.
Treatment of Birt-Hogg-Dubé Syndrome
Treatment of Birt-Hogg-Dubé Syndrome does not cure the disease, but it helps reduce its symptoms and consequences for the life of individuals.
Benign tumors that arise on the skin can be removed surgically, derma-abrasion, laser or skin wear.
Pulmonary cysts or renal tumors should be prevented by examinations of computed tomography, MRI or ultrasonography. If cysts or tumors are detected in the exams, they should be removed surgically.
In cases where there is kidney cancer, treatment should consist of surgery, chemotherapy or radiation therapy.
Useful links:
- Cyst in the kidney
- Pneumothorax
