Research
The Birt-Hogg-Dubé Syndrome is a genodermatosis (genetic skin condition). It is characterized by several symptoms, namely skin lesions (hair follicle tumors such as fibrofolliculomas), lung cysts and lung collapses, and kidney tumors.It is caused by a germline mutation in the BHD gene. A germline mutation occurs when an alteration in an egg or sperm becomes part of the cell DNA, and when this alteration is passed from a parent to a child. This means that it is a hereditary condition. In most cases, if you have the Birt-Hogg-Dubé syndrome, it was passed to you from one of your parents.
In a few cases, we have seen a de novo case of BHD . De novo means new; in these instances, the gene alteration is seen for the first time in a family and no older generations have the BHD gene alteration. We do not yet know what causes this new alteration, or the alteration in hereditary cases, to happen.
Scientist in several different areas of the world are researching various aspects of this syndrome. Some researchers are working on understanding how the BHD gene works. This gene is called folliculin (FCLN). A better understanding of the gene and the gene pathway will help scientists develop treatments.
The Inaugural BHD Symposium is being held in Roskilde, Denmark, on September 3, 2008, and we will report on current scientific research on BHD after that meeting.
BHD Cure
There is currently no cure for BHD. If you are diagnosed with the syndrome, it is therefore important for you to monitor your health and have regular check ups.
BHD Treatment and Clinical trials
If a treatment is developed, it will be introduced in the form of a clinical trial. Such a trial is proposed by researchers and doctors who determine the conditions in which the treatment can be given, establish criteria for patient inclusion and exclusion, and make decisions about dosage and duration of the treatment. The proposal they design has to be approved by an Institutional Review Board to make sure it adheres to safety standards and that the patient is well and fully informed before approval is given to start a trial.