BIRT-HOGG-DUBÉ SYNDROME

BHD FRANCE

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THE DISEASE

Birt-Hogg-Dubé Syndrome

Birt-Hogg-Dubé syndrome (BHD) is a rare genetic disorder caused by mutations in a gene called folliculin (FLCN). It can manifest as skin lesions called fibrofolliculomas, lung cysts leading to spontaneous and recurrent pneumothorax, and benign or cancerous kidney tumours. The fact that it has multiple signatures makes it very difficult to diagnose. BHD syndrome, discovered in the 1970s, is an orphan disease that is chronic and currently has no treatment.

Discover the BHD in pictures

BHD is inherited in an autosomal dominant pattern.
This means that:

If you have BHD, you most likely inherited it from a parent.

Men and women have the same chance of inheriting BHD.

 If you have BHD, any children they have will have a 50% chance of inheriting the disease

It is possible that you have a completely new mutation in the FLCN gene, which means that you are the first person in your family to have BHD.However, this situation is rare.

There is no typical person with BHD. Symptoms can vary from person to person and develop at different times. You may have no symptoms or you may develop them later in life.

At present, there is no way to predict who will have which symptoms, when they will develop, or how they will progress.

BHD in figures

% of people

with BHD have skin lesions

% of patients

with BHD have lung cysts

in 4 people

with BHD have kidney cancer

FAQ

Frequently asked questions

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What are the symptoms of BHD?

  • Skin lesions called fibrofolliculomas, which are whitish in colour and located on the face, neck, and sometimes on the chest.

  • Lung cysts that can cause one or more spontaneous pneumothoraxes.

  • Benign (oncocytomas) or malignant (cancers) kidney tumours that generally grow slowly and can be treated if diagnosed early.

What are the treatments?

Although there is currently no cure for BHD, geneticists in several countries around the world, including Dr. Sophie Couvé at the Gustave Roussy Institute in Georges Pompidou Hospital in Paris, are beginning to study the defective gene (folliculin FLCN) to understand why it malfunctions and the possible reasons for its mutations.

Positive! Am I at risk?

BHD is not normally life-threatening, and with regular monitoring and an understanding of the symptoms, most people live normal lives.

Will my children be affected?

If you have BHD, each of your children has a 50% chance of also having BHD.

Where does the name BHD come from?

BHD is named after three Canadian doctors who described it in 1977: Arthur R. Birt, Georgina R. Hogg, and William J. Dubé.