Birt-Hogg-Dube Syndrome
Also known as: BHD Syndrome, Fibrofolliculomas, Trichodiscomas, and Acrochordons, Renal Cancer and Spontaneous Pneumothorax Syndrome
Birt-Hogg-Dube (BHD) syndrome is a rare genetic disorder characterized by skin lesions (fibrofolliculomas, trichodiscomas, acrochordons), lung cysts and spontaneous pneumothorax (collapsed lung), and an increased risk of renal (kidney) cancer. The severity and specific manifestations of the condition can vary significantly among affected individuals, even within the same family.
Imagine your body sometimes makes little bumps on your skin, gets air stuck in your lungs, or grows lumps in your kidneys. Birt-Hogg-Dube Syndrome is when all these things can happen because of a tiny mistake in your body's instructions (genes). Doctors can help manage these problems to keep you healthy.
Signs & Symptoms
- Fibrofolliculomas (small, dome-shaped skin tumors on the face, neck, and upper trunk)
- Trichodiscomas (skin-colored papules, often on the face)
- Acrochordons (skin tags)
- Lung cysts (often asymptomatic)
- Spontaneous pneumothorax (collapsed lung)
- Renal cell carcinoma (increased risk, often bilateral and multifocal)
- Colorectal polyps
Treatment Options
Surgical removal of skin lesions (fibrofolliculomas)
MODERATELY EFFECTIVELaser therapy for skin lesions
MODERATELY EFFECTIVEManagement of pneumothorax (chest tube insertion, pleurodesis)
HIGHLY EFFECTIVESurveillance for renal tumors (regular abdominal imaging)
HIGHLY EFFECTIVESurgical resection or ablation of renal tumors
HIGHLY EFFECTIVEmTOR inhibitors (e.g., everolimus, sirolimus) for advanced renal cell carcinoma
MODERATELY EFFECTIVE Approved 2009Diagnosis
- Clinical examination (skin lesions)
- Skin biopsy (histopathology of fibrofolliculomas)
- Chest CT scan (lung cysts and pneumothorax)
- Abdominal CT scan or MRI (renal tumors)
- Genetic testing (FLCN gene mutation analysis)
History
Birt-Hogg-Dube syndrome was first described in 1977 by Arthur Birt, Georgina Hogg, and William Dubé, who reported the association of fibrofolliculomas, trichodiscomas, and acrochordons in a Canadian family.
Recent Breakthroughs
Novel FLCN Mutation Identified in Atypical BHD Presentation
A study identified a novel FLCN mutation in a patient presenting with atypical BHD features, expanding the known spectrum of mutations and clinical manifestations associated with the syndrome.
Improved Imaging Techniques for Early Detection of Renal Tumors in BHD Patients
Advancements in MRI techniques have improved the sensitivity and specificity for detecting small renal tumors in BHD patients, facilitating earlier intervention and improved outcomes.