Birt-Hogg-Dubé syndrome is a rare genetic disease that causes skin damage, kidney tumors and cysts in the lungs.
The causes of Birt-Hogg-Dubé syndrome are mutations in a 17 chromosome gene, called FLCN, which loses its function as a tumor suppressor and leads to tumors in individuals.
Birt-Hogg-Dubé syndrome is incurable and treatment involves removing tumors and preventing their onset.
The photos can identify skin lesions that appear in Birt-Hogg-Dubé syndrome, resulting in small benign tumors forming around the hair.
Symptoms of Birt-Hogg-Dubé syndrome may include
People 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.
Skin lesions are called “fibropholiaclems” and consist of small grains that result from the buildup of collagen and fibers around the hair. Generally, this skin sign of Birt-Hogg-Dubé syndrome appears between the ages of 30 and 40. .
Diagnosis of Birt-Hogg-Dubé syndrome is made by identifying the symptoms of the disease and performing genetic tests to identify a mutation in the FLNC gene.
Treatment of Birt-Hogg-Dubé syndrome does not cure the disease, but it helps reduce its symptoms and its consequences on people’s lives.
Benign tumors that appear on the skin can be surgically removed, by dermoabrasion, laser, or by skin wear.
Pulmonary cysts or renal tumors should be avoided by CT, MRI or ultrasound; if cysts or tumors are detected during examinations, they should be surgically removed.
In cases where kidney cancer develops, treatment should include surgery, chemotherapy, or radiation therapy.