Understanding the Skin

People with BHD have rare changes in their DNA in a gene called “folliculin”. They may develop skin bumps, lungs collapses and/or kidney cancer. The skin bumps are a type of skin tumour. They are not dangerous but can affect people’s mental health. Our understanding as to why these skin bumps called “trichodiscoma” and “fibrofolliculoma” develop in BHD and what makes them grow is incomplete. We are funding a project that plans to address these questions.

Using novel technologies, the research team will study the abundance, role, and relative proportions of different cell types in BHD skin bumps. This will inform our understanding of skin bump cells, skin immune cells and their interaction.

The results of this project will help us to better understand the skin bumps which will help us to develop future treatments.

Studying BHD skin tumours one cell at a time can give novel insights into how these tumours form and grow. - Professor Neil Rajan