Symptoms & Treatments
BHD is a rare genetic condition. People with BHD get skin bumps, lung cysts, collapsed lungs and/or kidney cancer.
Here you can find out more about the different symptoms of BHD, how they are diagnosed, screened for and the different treatment options.
Kidney Cancer and BHD
Around 1 in 3 people with BHD get kidney cancer. In most cases these tumours grow slowly, rarely spread, and are not life-threatening so long as you get prompt and appropriate treatment.
Kidney Cancer - Sign and Symptoms
Find out more about the common signs and symptoms of kidney cancer.
Kidney Cancer Surveillance
If you have BHD, you should have your kidneys screened regularly. This means that if you do develop kidney cancer it can be monitored and treated early.
Kidney Cancer Treatments
BHD doctors recommend having regular kidney scans, preferably using magnetic resonance imaging (MRI) to detect small tumours early. Any tumours are removed by surgery when they reach 3cm. There are several types of surgery that you may be offered.
Kidney Cysts
If you have BHD, you may get kidney cysts. Kidney cysts are rounded sacs usually filled with fluid.
Lung Cysts
9 in 10 people with BHD will develop lung cysts. Cysts are sacs or holes inside the lung that are filled with air.
Other Cancers
Currently, the only proven BHD symptoms are skin lesions, lung cysts, collapsed lungs and kidney cancer. Here we discuss other symptoms that have been seen in people with BHD, but may not be related to the syndrome.
Pneumothorax Treatments and Surgery
There are treatments for reinflating lungs and treatments for stopping lungs from collapsing again. Find out more about the different treatments.
Punctured Lung (Pneumothorax)
A pneumothorax occurs when the air leaks from the lung causing it to collapse. Sometimes this happens spontaneously, and no cause is ever found. However, several rare inherited conditions can cause a lung collapse including BHD.
Punctured Lung Symptoms
Learn about the symptoms of a punctured lung.
Skin and BHD
BHD can cause skin bumps. The most common skin bumps are called fibrofolliculomas, but you can also get trichodiscomas and skin tags.
Skin Treatment
There is no permanent treatment for fibrofolliculomas or trichodiscomas. However, there are some treatments that can remove the skin bumps temporarily.