The BHD Literature Database has been updated with two articles.

Furuya and Nakatani review the clincal and pathological features of the lung symptoms associated with BHD and suggest possible mechanisms for lung cyst formation. This article is freely available to download in the BHD Article Library: Clinical section.

Menko et al. describe a patient who presented with spontaneous pneumothorax and was found to have a de novo nonsense mutation in FLCN. The patient was subsequently found to have skin lesions and asymptomatic kidney cancer.

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