Three Cases of Systemic Sclerosis Within One Family With Different Antibodies and Clinical Features.

Abstract

Systemic sclerosis (SSc) is a heterogeneous disorder in which both genetic and environmental factors play a role in the pathogenesis.1 Familial occurrence of SSc is uncommon and accounts for < 2% of cases.2 Familial cases tend to have similar autoantibodies and disease features.3 HLA studies suggest that major histocompatibility complex (MHC) genes exert their influence primarily on antinuclear antibody (ANA) expression in SSc.4 Also, skin biology differences to anti-RNA polymerase III (ARA) and antitopoisomerase antibodies (ATA) were studied, suggesting both shared and ANA-specific molecular drivers.5.