The literature database has been updated with two papers:

Basic research:

Bradley et al. hypothesized that the clinical variability between Birt-Hogg-Dubé (BHD) syndrome patients’ symptoms may be due to infection by human polyomaviruses (HPyV) or papillomaviruses (HPV), which can affect the skin, lungs or kidneys. They analysed tissue from seven fibrofolliculomas, one renal tumour and one lung cyst biopsied from nine BHD patients for HPV and HPyV DNA. All samples were negative for viral DNA, suggesting that these viruses do not explain the clinical variability between patients.

Case study:

Matsuoka et al. describe the case of a 36 year old Japanese man who presented in clinic with recurrent pneumothoraces. CT scanning revealed the presence of numerous lung cysts and genetic testing confirmed a diagnosis of BHD syndrome.

To find out more, the latest version of the database is available to download here.