Birt-Hogg-Dubé (BHD) syndrome is a hereditary condition that was originally identified in 1977 as a skin condition by three Canadian doctors – Birt, Hogg, and Dubé. They found certain kinds of skin lesions on the faces and necks of several members of an extended family. In recent years, more symptoms have been linked to this syndrome, namely lung collapses and kidney cancer.

Birt-Hogg-Dubé syndrome is caused mutations in the folliculing gene (FLCN). A diagnostic gene test that can determine if a an individual is affected by syndrome. We also know that symptoms other than the skin lesions are associated with BHD. People who have the mutated gene may have lung cysts or experience collapsed lungs, and may develop kidney cancer. There is no typical BHD patient.

Since syndrome is ‘autosomal dominant’ this means that the son or daughter of an individual who has BHD has a 50% chance of having inherited it. The only way to know positively if you have BHD is to have a gene test.

Conversely, if you have BHD, then one of your parents has it. In an extraordinarily rare case, you could be the first one in your family who has a mutation of the FLCN gene, this arises as a result of spontaneous or ‘de novo’ mutations.

If you carry the gene mutation , then your parent’s siblings can have BHD. If they do, their children have a 50% chance of having BHD, as do your children.

Family members with the syndrome may have none, one, or all of the physical symptoms of BHD. We can’t tell who will get which symptoms. The fact that kidney cancer can be one of the symptoms of this syndrome makes it potentially serious. However, only a small percentage of those with BHD actually develop kidney cancer.

BHD is currently considered to be a rare syndrome. Researchers need more data to be able to say how many people carry the Birt-Hogg-Dubé gene. Because of the wide range of symptoms we expect that the syndrome is under diagnosed.  Many current patients were only identified when they were diagnosed with fibrofolliculomas or with kidney cancer.

This means that many people with BHD are unaware they have it because it has not have a negative impact on their lives.

Information Pamphlets

An introduction to BHD Syndrome, it’s diagnosis and further information regarding the symptoms and treatment of skin and lung symptoms can be downloaded and printed for your use. You may find these useful if you or someone in your family is affected by BHD Syndrome.

They are available in two formats: Tri-Fold Pamphlet (print on both sides of A4 and fold along the dotted lines) or Single Pamphlet (print on one side of A4)

Single Pamphlets:

BHD Syndrome – Diagnosis Information

BHD Syndrome – Lung Symptoms & Treatment

BHD Syndrome – Skin Symptoms & Treatment

BHD Syndrome – Information for Clinicians: a good starting point for clinicians new to BHD Syndrome, or you might want to print this off and give it to your family doctor.

Tri-Fold Pamphlets:

BHD Syndrome – Diagnosis Information

BHD Syndrome – Lung Symptoms & Treatment

BHD Syndrome – Skin Symptoms & Treatment

Have you recently been diagnosed with BHD Syndrome? Introduce yourself to the BHD community using our forum.