Familial aggregation of systemic sclerosis observed in the 1970 of twenty century, the presence of karyotype instability and chromosomal mosaicism and positive associations of certain polymorphisms of genes located in specific regions of the human genome may indicate the important contribution of genetic factors in the development and progression of the disease. The purpose of this paper is to present data on genetic changes found in scleroderma. Despite the enormous progress of research it is not yet clear, which disturbances in a specific way determine onset and development of the disease and which are non-specific forms of molecular abnormalities also present in other diseases with similar clinical symptoms.