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Birt-Hogg-Dubé Syndrome (BHD)

What is Birt-Hogg-Dubé syndrome?

Birt-Hogg-Dubé syndrome (BHD) is a rare, genetic disorder that is characterized by skin lesions, lung cysts, collapsed lungs, and kidney cancer. It was first recorded in 1977, and there are only 600 affected families throughout the world reported, although the true prevalence is likely to be much higher.

What are the symptoms of Birt-Hogg-Dubé syndrome?

Not all patients present every symptom of BHD. In fact, there is no ‘typical’ BHD patient. The characteristic symptoms are skin lesions (which affect ~90% of patients), lung cysts (which affect ~80% of patients), collapsed lungs (which affect about ~25% of patients), and kidney cancer (which affects ~30% of patients). Not every patient experiences every symptom, and there is no way to predict which effects will appear.  

Other possible – but not confirmed – symptoms of this condition include parotid tumors, colon polyps, thyroid nodules, colon cancer, and thyroid cancer. 

What causes Birt-Hogg-Dubé syndrome?

A mutated Folliculin (FLCN) gene causes this syndrome, and it is inherited in an autosomal dominant pattern. This mutation causes low production of the Folliculin protein, resulting in the characteristic symptoms. 

How is Birt-Hogg-Dubé syndrome diagnosed?

Doctors may suspect BHD based on its characteristic symptoms, but the only way to confirm a diagnosis is through genetic testing. 

What are the treatments for Birt-Hogg-Dubé syndrome?

There is no cure for BHD, but with appropriate monitoring and interventions, prognosis is good. It is recommended that patients are regularly screened for kidney cancer, and they should also be aware of the signs of a collapsed lung and other symptoms. Treatment is symptomatic. 

Where can I find out more about Birt-Hogg-Dubé syndrome?

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