Overview and Facts about Birt-Hogg-Dube Syndrome (BHD)
Birt-Hogg-Dube syndrome (BHD) is a rare hereditary skin condition that causes noncancerous tumors on the face, head, and upper torso. The tumors grow within hair follicles and are known as fibrofolliculomas. BHD sufferers are also at risk of pulmonary complications, including benign cysts in the lungs, and kidney neoplasia.
Signs and Symptoms of Birt-Hogg-Dube Syndrome (BHD)
Signs and symptoms will vary depending on the individual. Benign tumors on the face and torso usually appear in the individual’s twenties or thirties, and they tend to become larger and more numerous over time.
Sufferers often also have a higher risk of developing lung cysts and pneumothorax, an excessive accumulation of air in the chest, which can lead to a lung collapse. BHD is also linked with the occurrence of benign or cancerous tumors in the kidneys.
Causes and Risk Factors of Birt-Hogg-Dube Syndrome (BHD)
BHD is a hereditary condition, which means that the disease can be passed on through generations of a family. Medical experts believe that BHD is caused by a mutation in the FLCN gene.
This creates the folliculin protein, which causes the BHD tumors. Although the exact number of families with BHD is unknown, the disease is considered to be rare.
Tests and Diagnosis of Birt-Hogg-Dube Syndrome (BHD)
Typically, a diagnosis is made when you visit a dermatologist. The dermatologist will take a biopsy of one of your tumors and examine the tumor’s cells under a microscope.
A skin punch biopsy removes several layers of skin, allowing the dermatologist to diagnose large skin tumors such as fibrofolliculomas. If the dermatologist diagnoses BHD, you should get a genetic test, which is the only way to know for certain if you have BHD.
It is important to get a diagnosis as early as possible so that you can begin treatment before lung tumors and other complications arise.
Treatment and Care for Birt-Hogg-Dube Syndrome (BHD)
Current treatments for BHD can only remove fibrofolliculomas temporarily, and there is no permanent treatment for this condition. If you only have a few tumors, your dermatologist will probably be able to remove them repeatedly without significant scarring. It may be more difficult to remove larger tumors without noticeable scarring.
A chest tube thoracostomy is a surgical procedure designed to remove a buildup of air from the chest cavity, which involves the insertion of a hollow plastic tube between the ribs. A suction device is used to remove the air, but draining the air can take several days. This process often enables a collapsed lung to reinflate by itself.
