Glossary

Birt-Hogg-Dubé syndrome (Birt Hogg Doo-bay) – a rare genetic syndrome that can lead to skin lesions, lung cysts, pneumothorax and renal cell carcinoma

Folliculin (fol-lik-you-lin) – the Folliculin gene encodes the Folliculin protein, which has a number of important functions in the cell. BHD patients have a mutation in one of their two copies of the Folliculin gene.

Skin Lesion – a general term for any part of the skin with an unusual appearance or growth compared to healthy skin. 9 in 10 BHD patients have skin lesions.

Fibrofolliculoma (fy-bro-fol-lik-you-lo-ma) – non-cancerous growths of the hair follicle which look like pale bumps, and are found on the face, neck, ears and upper body. These are the most common skin lesion in BHD patients.

Trichodiscoma (try-ko-disk-oh-ma) – similar to fibrofolliculomas, but are the same colour as the surrounding skin, rather than a paler colour.

Lung cyst – sacs of lung tissue filled with air. They are sometimes also called blebs or bullae (bull-ee). 9 in 10 people with BHD get lung cysts.

Spontaneous Pneumothorax (new-mo-thor-rax) – a collapsed lung that is not caused by an injury. 1 in 4 people with BHD get at least one pneumothorax.

Kidney cyst – fluid filled sacs in the kidney. They are not cancerous, but can develop into cancer over time.

Renal cell carcinoma – a type of kidney cancer that 1 in 3 people with BHD develop.

Oncocytoma (on-ko-site-oh-ma) – a type of renal cell carcinoma. It is rarely seen in sporadic cases of kidney cancer, but is quite commonly seen in BHD patients.

Chromophobe – a type of renal cell carcinoma. It is rarely seen in sporadic cases of kidney cancer, but is quite commonly seen in BHD patients.

Clinical geneticist – a doctor who specialises in genetic and hereditary diseases.

Genetic Counsellor – a healthcare provider with specialist training in genetics who can provide information and support if you are diagnosed with a genetic disease. Genetic counsellors usually have a nursing or science background.

Dermatologist – a doctor who specialises in skin diseases.

Pulmonologist – a doctor who specialises in lung diseases.

Urologist – a doctor who specialises in kidney diseases.

Oncologist – a doctor who specialises in cancer.
 

 
Publication date: December 2014
Review date: December 2017