The literature data base has been updated with three papers:

Spring et al. describes the cases of three BHD patients, one of whom had been referred to a dermatology clinic with suspected TSC, which can have similar symptoms to BHD. The authors review the histopathological similarities of the skin lesions seen in BHD and several other syndromes. They advise dermatologists to be aware of these rare syndromes and to ensure genetic testing is carried out to allow the correct diagnosis and appropriate symptom management for their patients.

Koo and Yoo review the characteristics and underlying causes of several cystic lung diseases, including BHD. This paper is available to download from the BHD Articles Library: Clinical section.

Sano et al. show that FNIP2, which interacts with FLCN, is required to promote MNU-induced apoptosis in HeLa cells. Their data suggest that under normal circumstances, the levels of FNIP2 protein are maintained in equilibrium by opposing action of FLCN and AMPK. Upon MNU-treatments, FLCN and FNIP2 phosphorylated AMPK, causing it to dissociate from FLCN and FNIP2. In turn, this allowed FNIP2 protein levels to increase and for apoptosis to proceed.

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