Although everyone experiences Birt-Hogg-Dubé syndrome (BHD) differently, a common feature that people share is that healthcare professionals often have not heard of the condition. An article by Dazé et al not only described a case of BHD but designed a quiz, based on the case, as an education tool for healthcare professionals.
The article describes a 54-year-old man with a 10-year history of white- and skin-coloured papules across his face and neck. Biopsies from the papules revealed them to be trichodiscomas, which are benign skin lesions similar to fibrofolliculomas – the difference being these are skin coloured rather than white. This finding led to imaging of his abdomen and pelvis, which showed lung cysts and bilateral kidney cysts. Genetic testing confirmed he had a mutation in his folliculin gene, and hence a diagnosis of BHD was obtained.
The quiz takes this scenario and asks three questions. Firstly, it asks for a diagnosis based on this case. Secondly it asks about the cancer associated with the syndrome and finally it asks about the histology of fibrofolliculomas. Although short this article allows healthcare professionals to work through a case of BHD and pinpoint exactly the features of BHD to aid future diagnosis.