Skin

Skin, as a large and clearly visible organ, is very important in life. Genetic variation, which is inherited from our parents, contributes to the colour and texture of our skin. In some families, rare genetic changes can be inherited, causing problems with the skin which range from dry scaly skin (called ichthyosis) to thickened skin (which we call keratoderma) and inflammation (red, sore or itchy skin) or fragile skin which leads to blistering. The hair, nails are teeth are produced in the same way as skin, so they can also be affected. These diseases are very distressing and can also be life-threatening.

Our group represents a collection of skin specialists (dermatologists) and geneticists who are interested in rare skin diseases. Many of the inherited skin diseases have no effective treatments and no cure. If we can understand the genes which cause these diseases we would be able to explain the diseases to our patients more clearly, for example to advise whether other people in their family could be affected. We also hope that understanding genetic mechanisms – how genes work to cause disease in the skin – will pave the way to developing new and better treatments.