The Birt-Hogg-Dubé syndrome (BHDS) is a rare genetic disorder characterized by benign skin tumors, lung cysts, and a greater risk of kidney cancer.
A mutation in the FLCN gene causes BHDS, which causes the protein folliculin to be produced. It is not fully understood how mutations in the FLCN gene lead to skin tumors, lung cysts, and kidney cancer, despite the fact that Folliculin regulates cell growth and division.
There are several symptoms associated with BHDS, including:
Known as fibrofolliculomas, these are small, flesh-colored or whitish papules or nodules on the face, neck, or upper trunk.
Cysts in the lungs are thin-walled air-filled sacs that can cause shortness of breath or spontaneous pneumothorax.
There is an increased risk of developing renal cell carcinoma, a type of kidney cancer, in middle-aged adults with BHDS.
There may also be other skin lesions such as trichodiscomas or acrochordons (skin tags).
A pneumothorax occurs when a lung cyst ruptures, causing chest pain and difficulty breathing.
A combination of clinical evaluation, imaging studies, and genetic testing is commonly used to diagnose BHDS.
The medical history and physical examination include evaluation of symptoms, family history, and skin lesions.
To assess for lung cysts, computed tomography (CT) scans of the chest are recommended, as well as abdominal imaging (e.g., ultrasound, CT, or MRI) to screen for kidney tumors.
The removal and examination of a skin lesion to determine whether it contains fibrofolliculomas or other characteristic skin tumors.
The FLCN gene mutation is identified by DNA analysis to confirm the diagnosis of BHDS and to assess familial inheritance patterns.
Treatment for BHDS focuses on managing symptoms, preventing complications, and monitoring for potential malignancies. Treatment options may include:
Surgical excision or laser ablation of fibrofolliculomas or other bothersome skin lesions for cosmetic or symptomatic reasons.
Regular monitoring of lung function and imaging studies to prevent complications such as pneumothorax and lung cysts.
Kidney Cancer Screening: Periodic abdominal imaging (e.g., MRI or CT scan) to detect and monitor renal cell carcinoma.
Treatment of pneumothorax may include chest tube insertion or pleurodesis to re-expand the lung and prevent recurrence.
Counseling and education about inheritance patterns, genetic testing, and screening recommendations for associated conditions for individuals with BHDS and their families.
Because of its genetic nature, BHDS cannot be prevented at present, but early detection, regular monitoring, and appropriate management can help prevent complications and improve outcomes. Individuals with a family history of BHDS may benefit from genetic counseling to assess their risk of inheritance and to learn about screening and management options.
It is characterized by skin tumors, lung cysts, and an increase in the risk of kidney cancer in Birt-Hogg-Dubé syndrome. In order to prevent complications and improve outcomes for affected individuals, prompt diagnosis, regular monitoring, and appropriate management are crucial. Individuals with BHDS and their families can optimize care with genetic counseling and early intervention, even though prevention may not be possible.
