BHD Literature Database Updated

The BHD Literature Database has been updated with 6 articles.


Kuroda et al. review the clinical and pathological features of renal oncocytomas found in BHD syndrome.

Tee and Pause review the role of FLCN in tumour suppression and numerous cell signalling pathways, including AMPK signalling, energy sensing and transcription regulation. They suggest that FLCN may be a housekeeping gene and discuss the recent finding that FLCN has guanine exchange factor activity.

Schmidt reviews BHD research from discovering the FLCN gene to identifying interacting partners and its role in cellular pathways, and how this knowledge may lead to new therapies for the disease.

Case studies

Lindor et al. present the case study of a 45-year old woman carrying a FLCN mutation who presented with parotid tumours and subsequently fibrofolliculomas. This paper was discussed in a recent blog post.

Lichte et al. present a case study of a 43-year old man with white-skin coloured shiny papules on his face and neck, and papular mucinosis. [Article in German].


Gaur et al. found the dFLCN interacts with Rpt4 in the nucleolus and downregulates rRNA synthesis. They also found that dFLCN inhibits the Ras/ERK signalling pathway. This paper was discussed in a recent blog post.

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