Author Archives: Myrovlytis Trust

The BHD Literature Database has been updated with a proposal by Dr Rudolf Happle to rename BHD syndrome as Hornstein-Birt-Hogg-Dubé syndrome. The author argues that Hornstein was the first to comprehensively describe the syndrome. To find out more, download the latest … Continue reading →

A case report by Byrne et al is the latest addition to the BHD Literature Database. Byrne et al presented a patient diagnosed with BHD who was identified to have a renal angiomyolipoma. Renal angiomyolipomas are usually associated with tuberous … Continue reading →

A case study by Hofmann and Hetz has been added to the BHD Literature Database. The authors reported the case of teenage male twins who both presented with spontaneous pneumothorax, within five months of the each other. The authors discussed … Continue reading →

The interactive diagram illustrating the signalling pathways associated with Folliculin has been updated according to the latest research. Additionally, as the pathways are becoming more complex, the diagram now also features a pop-up box with further details. Explore the diagram … Continue reading →

The BHD Literature Database has been updated with a review of BHD syndrome by Bradley et al. The authors focused on the clinical manifestations and diagnosis of BHD and emphasised the importance of recognising its symptoms. The article is in … Continue reading →

The BHD Literature Database has been updated with a case report by Tefekli et al. The authors presented a nephron-sparing surgical procedure on a patient with clinically-consistent BHD syndrome and multiple kidney tumours. The authors questioned the risks of vascular clamping … Continue reading →

The Myrovlytis Trust currently has three part-time internship positions available for nine weeks in July and August 2012. Successful candidates will have an independent project to complete based on analysing research into a rare genetic kidney disorder. The internships will suit … Continue reading →

The BHD Literature Database has been updated with a report by Cho et al. The authors described a patient with one fibrofolliculoma on the ear. To find out more, download the latest version of the database here.

The BHD Literature Database has been updated with two papers. Kim et al described a novel in-frame deletion mutation in exon 6 of FLCN. The mutation was identified in a 40 year-old woman who presented with spontaneous pneumothorax and skin … Continue reading →

The BHD Literature Database has been updated with a pathological study of BHD-associated pulmonary cysts in 11 individuals from 9 families. The researchers found that the inner walls of BHD-associated cysts are lined with epithelial cells, and that many of … Continue reading →