About Birt-Hogg-Dube Syndrome (BHDS)

What is Birt-Hogg-Dube Syndrome (BHDS)?

Birt-Hogg-Dube Syndrome (BHDS) is a rare genetic disorder that is characterized by the growth of noncancerous (benign) tumors on the skin, as well as an increased risk of developing kidney cancer. It is caused by a mutation in the FLCN gene, which is responsible for producing a protein that helps regulate cell growth. People with BHDS may also experience other symptoms, such as cysts on the kidneys, lung cysts, and an increased risk of developing certain types of skin cancer.

What are the symptoms of Birt-Hogg-Dube Syndrome (BHDS)?

The most common symptoms of Birt-Hogg-Dube Syndrome (BHDS) include:

-Multiple skin tumors (fibrofolliculomas)
-Cysts on the kidneys
-Lung cysts
-Lung tumors
-Frequent pneumothorax (collapsed lung)
-Frequent kidney stones
-High blood pressure
-Abnormal hair growth
-Frequent acne
-Frequent skin tags
-Frequent sebaceous adenomas
-Frequent lipomas
-Frequent angiofibromas
-Frequent trichodiscomas
-Frequent acrochordons
-Frequent milia
-Frequent fibromas
-Frequent fibroepithelial polyps
-Frequent fibrous papules

What are the causes of Birt-Hogg-Dube Syndrome (BHDS)?

Birt-Hogg-Dube Syndrome (BHDS) is caused by a mutation in the FLCN gene. This gene is responsible for producing a protein called folliculin, which is involved in cell growth and development. Mutations in this gene can lead to the development of BHDS.

What are the treatments for Birt-Hogg-Dube Syndrome (BHDS)?

1. Surgery: Surgery is the most common treatment for BHDS. It involves removing the abnormal growths (fibrofolliculomas) and other skin lesions.

2. Laser Therapy: Laser therapy can be used to reduce the size of the fibrofolliculomas and other skin lesions.

3. Medications: Certain medications, such as retinoids, can be used to reduce the size of the fibrofolliculomas and other skin lesions.

4. Photodynamic Therapy: Photodynamic therapy is a type of light therapy that can be used to reduce the size of the fibrofolliculomas and other skin lesions.

5. Clinical Trials: Clinical trials are ongoing to evaluate new treatments for BHDS.

What are the risk factors for Birt-Hogg-Dube Syndrome (BHDS)?

1. Family history: BHDS is an inherited disorder, so having a family history of the condition increases the risk of developing it.

2. Age: BHDS is more common in adults aged 30-50.

3. Gender: BHDS is more common in males than females.

4. Ethnicity: BHDS is more common in people of Asian descent.

Is there a cure/medications for Birt-Hogg-Dube Syndrome (BHDS)?

At this time, there is no cure for Birt-Hogg-Dube Syndrome (BHDS). However, there are medications that can help manage the symptoms of the condition. These include medications to reduce the risk of kidney cancer, such as angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blockers (ARBs), and statins. Other medications, such as diuretics, can help reduce the risk of kidney stones. Additionally, regular monitoring of kidney function is recommended to help detect any changes in kidney health.