Children's Hospital Colorado
Genetics and Inherited Metabolic Diseases

Birt-Hogg-Dubé Syndrome

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Genetics and Inherited Metabolic Diseases
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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.

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