Molecular assessment of familial skin fibrosis

This project is about exploring the inheritance of fibrotic lumps within the skin. We have identified two pedigrees with autosomal dominant inheritance pattern indicating a mendelian segregation in some individuals. We think that these examples of familial fibrotic lumps may represent an extreme variant of more commonly seen fibrous lumps in the skin, and that the molecular characterisation of these familial fibrotic lumps will provide broader insights into mechanism of skin fibrosis in general.