Birt-Hogg-Dubé Syndrome: Symptoms, Causes, Treatment

What are the symptoms of Birt-Hogg-Dubé syndrome?

Birt-Hogg-Dubé (BHD) syndrome is a rare genetic disorder that can lead to various symptoms. Here are the primary symptoms associated with BHD syndrome:

• Skin Lesions: Individuals may develop benign skin tumors called fibrofolliculomas, which appear as small, painless bumps on the skin. These are often found on the face, neck, and upper trunk.
• Lung Cysts: BHD can cause the formation of multiple air-filled cysts in the lungs, which can lead to spontaneous pneumothorax (collapsed lung). Symptoms may include chest pain, shortness of breath, and coughing.
• Kidney Tumors: Patients with BHD are at increased risk of developing kidney tumors, including chromophobe renal cell carcinoma, and other types of renal cell carcinoma. Symptoms of kidney tumors may include blood in the urine, lower back pain, and a mass in the abdomen.
• Other: Some individuals may experience a range of other symptoms or complications, such as kidney pain or respiratory issues due to lung cysts.

Regular monitoring and early intervention are important for managing these symptoms and reducing the risk of complications. If you have concerns about BHD syndrome, consulting with a healthcare professional or genetic counselor is recommended.

What are the causes of Birt-Hogg-Dubé syndrome?

Birt-Hogg-Dubé (BHD) syndrome is caused by mutations in the FLCN gene. This gene provides instructions for producing a protein called folliculin, which is involved in regulating cell growth and division. When the FLCN gene is mutated, it can lead to the development of the characteristic features of BHD syndrome.

Here’s a summary of the causes:

• Genetic Mutations: BHD syndrome is inherited in an autosomal dominant pattern, meaning that a mutation in just one copy of the FLCN gene is sufficient to cause the syndrome. Each child of an affected individual has a 50% chance of inheriting the mutated gene.
• Inherited and Sporadic Cases: The majority of BHD cases are inherited, but in rare instances, the mutation can occur spontaneously (de novo) without a family history of the syndrome.

Genetic testing can confirm the diagnosis of BHD syndrome by identifying mutations in the FLCN gene. If BHD syndrome is suspected, consulting a genetic counselor or specialist is recommended for proper diagnosis and management.

What is the treatment for Birt-Hogg-Dubé syndrome?

There is no specific cure for Birt-Hogg-Dubé (BHD) syndrome, so treatment focuses on managing symptoms and reducing complications. Regular monitoring is essential. Dermatological exams help keep track of skin lesions such as fibrofolliculomas, which may require removal. For lung issues, imaging like chest CT scans helps monitor lung cysts and detect any spontaneous pneumothorax (collapsed lung) early, with treatments including oxygen therapy or procedures to remove air from the pleural space if needed.

Kidney tumors are managed with regular renal imaging to detect any early changes. If tumors are found, surgical removal may be necessary. Regular follow-up with imaging ensures that any new tumors or changes in existing tumors are detected promptly. Genetic counseling is also important, especially for family planning, as it provides insights into the inheritance pattern and assesses the risk for family members.

Symptom management includes addressing any pain or discomfort associated with skin lesions or kidney tumors and providing supportive care and education for affected individuals and their families. Early detection and proactive management of symptoms can significantly improve outcomes and quality of life for those with BHD syndrome.