Birt Hogg-Dube Syndrome Cancer
Birt-Hogg-Dube syndrome (BHD) is a genetic condition. BHD syndrome is a rare disorder in which non-cancerous growth are seen on patient’s faces and are at a risk of kidney cancer. Patients may have the risk of developing cyst in their lungs, liver and kidneys. A change in a particular gene called FLCN, which creates folliculin, a protein, is said to be the main cause of BHD. Fibrifolliculomas are the most common skin tumours in BHD. They are light and skin coloured tumours that occur in the hair follicles. Two skin tumours related to BHD are trichodiscomas and acrochordons. Acrochordons more commonly known as skin tags, and trichodiscomas which are a growth of normal showing tissue that changes into a noncancerous tumour. Kidney tumours of many types are seen in people with Birt Hogg-Dube syndrome. Multiple tumours may occur on both kidneys. Tumours tend to grow slowly, but they are likely to develop into kidney cancer.
The signs or symptoms of Birt Hogg-Dube syndrome include multiple, benign skin lesions, lung (pulmonary) cysts,kidney (renal) neoplasia (malignant and benign tumours) and risk of repeated collapsed lungs (pneumothorax). Skin papules are the most frequent symptom occurring in up to 85% of individuals with BHD, but some affected individuals may develop lung cysts/pneumothorax and renal neoplasia without skin lesions.
Birt Hogg-Dube syndrome is caused by disruptions or alterations (mutations) in the folliculin gene (FLCN), which encodes the protein folliculin, a putative tumour suppressor gene whose function is still under investigation. The FLCN gene carries the instructions to produce (encode) folliculin, a protein whose precise function is not known, but which interacts with proteins that function in cellular pathways involved in cell growth, energy production, and metabolism. The FLCN gene is a gene that keeps cell growth in check and ensures that its growth rate is slowed down, repairs damage to the DNA of cells, and tells cells when to die, a normal process called apoptosis. Mutations in a tumour suppressor gene often predispose individuals to develop cancer.
The diagnosis of Birt Hogg-Dube syndrome is made from clinical evaluation, identification of characteristic manifestations along with detailed patient history, and identification of characteristic manifestations (symptoms) including 2 or more fibrofolliculomas, history of spontaneous pneumothorax or bilateral, multiple chromophobe or hybrid oncotic renal tumours. Surgical removal and Biopsy of affected skin tissue is performed to determine the type of skin lesion present. Detection of a disease-causing FLCN mutation in a DNA-based genetic test confirms the definitive diagnosis of BHD. Young individuals aged 14 have been reported with renal neoplasia. Genetic testing is recommended starting at age 21 in families who are at risk.
There is no specific treatment for Birt Hogg-Dube syndrome. The most effective treatment may include the use of a laser beam to destroy affected skin tissue (laser ablation), but the lesions often relapse.