The impact of genetic factors in systemic sclerosis

Scleroderma (progressive systemic sclerosis, SSc) is a multisystem tissue disease whose major pathology is excessive fibrosis, vascular abnormalities, and immune dysfunction. The term of "scleroderma" is derived from the Greek words skleros (hard or indurated) and derma (skin) and it was first described by Hippocrates as thickened skin. The contribution of genetic factors in the development and expression of scleroderma is strongly sustained by the observation of familial clustering of the disease; the high frequency of autoimmune disorders and autoantibodies in family members of patients with SSc; varieties in prevalence and clinical manifestations among different ethnic groups; the increased prevalence of certain HLAs and MHC alleles among different ethnic groups and among patients with different clinical subsets of the disease or with different patterns of autoantibodies.