Children's Hospital Colorado

Birt-Hogg-Dubé Syndrome

What is Birt-Hogg-Dubé syndrome?

Birt-Hogg-Dubé (BHD) syndrome is a rare genetic disorder that affects the skin, lungs and kidneys. The condition increases the risk of benign (noncancerous) skin tumors on the face, neck and chest, as well as increases the chance of developing cysts (fluid-filled sacs) in the lungs. This can result in an accumulation of air in the chest cavity, which can lead to a collapsed lung (pneumothorax).

BHD is also associated with an elevated risk of developing both malignant (cancerous) and benign renal tumors, which are tumors found on in the kidneys.

What causes Birt-Hogg-Dubé syndrome?

BHD is a genetic disorder, which means it is caused by the mutation of a gene; in this case, the FLCN gene is affected. Genes are made up of deoxyribonucleic acid (DNA) and create the blueprint for how the body is formed and how it functions.

The FLCN gene provides instructions for making a protein called folliculin, which stops the growth of tumors. Proteins like folliculin help to prevent cells from growing and dividing too rapidly, or in an uncontrolled way.

Who gets Birt-Hogg-Dubé syndrome?

Birt-Hogg-Dubé syndrome is hereditary, meaning it can be passed on from a parent to their child. A parent has the chance of passing on a normal gene or a mutated gene, resulting in the child having a 50% chance of inheriting BHD from their parent.

What are Birt-Hogg-Dubé symptoms and signs?

Birt-Hogg-Dubé symptoms vary from patient to patient. The most recognizable signs of the disease are multiple skin tumors on the face, neck and chest, which are known as fibrofolliculomas. Other signs of BHD include a collapsed lung caused by the cysts that characteristically grow in the lungs and decreased kidney function due to renal tumors.

How do we diagnose Birt-Hogg-Dubé in children?

A genetic test will determine if your child has BHD. This can be done by getting a DNA sample from swabbing the inside of the cheek or from a blood test.

If a parent is known to have BHD, we can test the child to see if they have inherited it. Otherwise, symptoms like skin tumors, lungs cysts or kidney tumors might be the first indication that your child has BHD. However, it is sometimes difficult to make a Birt-Hogg-Dubé diagnosis in children because these growths often don't appear until the age of 20 or older.

How is Birt-Hogg-Dubé syndrome treated?

Birt-Hogg-Dubé treatment differs depending on what symptoms your child is experiencing. For fibrofolliculomas, we can remove the tumors using surgery, excision, skin resurfacing or laser removal. However, this is not always a permanent solution because the tumors often grow back.

To address the renal tumors and lung cysts, we use imaging devices such as computed tomography (CT) scans, ultrasounds or magnetic resonance imaging (MRI) to regularly check for growths. All three tests produce internal images of the body so we can see if your child has tumors or cysts, the number of tumors or cysts, their location and their size.

By regularly monitoring any growths in the lungs or on the kidney, your child's doctor will be able to tell when the growth will need to be removed before it causes serious complications. Sometimes they recommend removing a lung or kidney if the growths on either organ pose a serious problem, or they may recommend partially removing an organ. The removal of a lung is called a pneumonectomy and the removal of a kidney is called a nephrectomy.

Why choose us for treatment of Birt-Hogg-Dubé syndrome?

Children's Hospital Colorado is part of the University of Colorado Cancer Center's VHL Family Alliance Clinical Care Center. Von Hippel-Lindau disease (VHL) is a multi-systemic genetic disorder very similar to BHD that can also cause kidney cancer and The VHL Alliance (VHLA) is an organization dedicated to helping individuals with VHL and BHD. As part of this program, we focus on providing advocacy and support for those in the Birt-Hogg-Dubé community.

Children's Colorado provides one of the few programs in the nation to be recognized by the VHL Family Alliance and the only one in the Rocky Mountain region. This partnership gives us access to the most recent research and treatment methods for BHD, so we can provide high quality, comprehensive care for patients and their families.

  • The BHD Foundation promotes research in medical and molecular genetics to better understand, diagnose, prevent, treat and cure Birt-Hogg-Dubé syndrome.
  • The National Organization for Rare Disorders (NORD) is a nonprofit, patient advocacy organization committed to the identification, treatment and cure of rare disorders through programs of education, advocacy, research and patient services.