BHD Literature Database Updated

The BHD Literature Database has been updated with two recent papers. Pierce et al feature BHD syndrome in a clinical practice case study to familiarise clinicians with diagnosis of the condition.

Tomassetti et al report on the lung lesions associated with BHD in a study of 12 patients from 3 unrelated families. They found that BHD syndrome can be misdiagnosed as lymphangioleiomyomatosis (LAM) on the basis of clinically indistinguishable symptoms. They also suggest that lung tumours may be associated with BHD syndrome. In the course of their investigation, Tomassetti et al found a novel mutation in the BHD gene.

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

Leave a Reply