Diagnosis of skin symptoms
Until the gene associated with Birt-Hogg-Dubé syndrome was discovered, diagnosis of the syndrome had to be made clinically by studying a person’s symptoms. This meant that if someone had sufficient physical signs of BHD, perhaps confirmed by specific test results, they were said to have BHD syndrome. This was an imperfect method of diagnosis for Birt-Hogg-Dubé families.
People who appeared to have fibrofolliculomas, but whose skin biopsies were inconclusive, were told there was no clinical diagnosis of Birt-Hogg-Dubé syndrome. Additionally, young people who did not show signs of BHD due to their age were told that they had no clinical signs of the syndrome. After the genetic test became available, some of these people found out that they did actually have Birt-Hogg-Dubé syndrome. The opposite can be true as well; people who show clinical symptoms of BHD may get a negative result from the gene test, as their symptoms may not have been due to a mutation in the gene associated with BHD syndrome.
In 2002, some researchers suggested that a person could be diagnosed with BHD syndrome if he/she had 10 or more fibrofolliculomas, with at least one confirmed by a biopsy. At the time this was the best option for a diagnosis; however, with the arrival of the genetic test a definitive diagnosis is now possible.
Visiting a dermatologist is often the first step towards getting a BHD diagnosis. Fibrofolliculomas are identified based on clinical presentation and histological examination.
Biopsies may be taken to confirm the identification. Your dermatologist may also be able to help you determine if there is anything you can do about alleviating or removing the skin symptoms you have, and you will be able to discuss the specifics of any available treatments. The appearance of fibrofolliculomas and other skin lesions do bother many of those affected by BHD and it is understandable that many people seek treatment for these.