BIRT-HOGG-DUBÉ SYNDROME

BHD 

Listen, help and support

Welcome to the BHD web site. The purpose of this site is to enable you to find all the information you need as a BHD patient

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

→ First let us define precisely what is the BHD Syndrome

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 your children 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 HD. Symptoms can vary from one person to another. 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, which obviously makes things difficult to manage on a daily basis.

.

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

blank
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.

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.