Birt-Hogg-Dubé syndrome also known as BHD is a hereditary disease first described in 1977. Name of the disease came after last name of the three Canadian doctors that found the disease, Arthur R. Birt, Georgina R. Hogg, and William J. Dubé. The BHD was discovered in 1977 association with the skin lesions, but the connection with the lungs and the kidneys were not found until 2002.
BHD is an autosomal dominant genetic disorder that primarily affects the skin, lungs, and kidneys. Autosomal dominant disorder means an abnormal gene that cause the disease is passed down from one parent, and men and women are likely to be equally affected, which means each offspring has a 50% chance of having the disease. It is caused by mutations in the folliculin (FLCN) gene. …show more content…
Today, approximately 600 families are reported to have BHD worldwide. However, it is believed many are not yet diagnosed because the difficulty of diagnosing the disease by variability in combination of disease and severity, thus, more families to have BHD is likely.
Skin
Patients with BHD (90%) are likely to have skin lesions. There are several different types of skin disorders with BHD, but the most common is a benign hair follicle tumor known as fibrofolliculomas. The fibrofolliculomas appears as pale skin bumps especially on the face, ears, neck, and the upper torso. Tumors can be anywhere from a few to hundreds. It usually starts to show in patients’ 20s and 30s and gets worse as they age. Usually 80% of BHD gets it by the age over 40s. Fibrofolliculomas is not cancerous and life threating, however, it can cause people to feel anxious about how they look.
There are different types of skin lesions that look similar to fibrofolliculomas. It is important to get seen by a dermatologist to check the type of skin lesions before getting a genetic testing for the
BHD is an autosomal dominant genetic disorder that primarily affects the skin, lungs, and kidneys. Autosomal dominant disorder means an abnormal gene that cause the disease is passed down from one parent, and men and women are likely to be equally affected, which means each offspring has a 50% chance of having the disease. It is caused by mutations in the folliculin (FLCN) gene. …show more content…
Today, approximately 600 families are reported to have BHD worldwide. However, it is believed many are not yet diagnosed because the difficulty of diagnosing the disease by variability in combination of disease and severity, thus, more families to have BHD is likely.
Skin
Patients with BHD (90%) are likely to have skin lesions. There are several different types of skin disorders with BHD, but the most common is a benign hair follicle tumor known as fibrofolliculomas. The fibrofolliculomas appears as pale skin bumps especially on the face, ears, neck, and the upper torso. Tumors can be anywhere from a few to hundreds. It usually starts to show in patients’ 20s and 30s and gets worse as they age. Usually 80% of BHD gets it by the age over 40s. Fibrofolliculomas is not cancerous and life threating, however, it can cause people to feel anxious about how they look.
There are different types of skin lesions that look similar to fibrofolliculomas. It is important to get seen by a dermatologist to check the type of skin lesions before getting a genetic testing for the