Somatic mutations in linear localized scleroderma
Linear localized scleroderma (LLS) occurs in children and leads to disfiguring scars which are arranged along the body axis. In the worst case the entire face and its underlying tissue can be affected. There is currently no effective treatment for this disease.
The arrangement of the LLS lesions is similar as in certain rare genetic diseases of the skin, thus it is possible that LLS is a genetic disease. In this project we investigate in a number of patients whether a causative genetic mutation is present in the affected skin, but not in healthy tissue.
This is performed by applying Whole Exome Sequencing. This allows the simultaneous analysis of all protein-coding genes on skin samples taken from the affected area. The identification of disease-causing mutations could help the development of new targeted therapies many affected patients are urgently waiting for.