5th June 2025

Aetiology

Aetiology is unknown but genetic, immunological and environmental factors have been suggested:

• Genetic: <5% of monozygotic and dizygotic twins are clinically concordant for systemic sclerosis; however, most monozygotic twins are concordant for antinuclear antibodies
• Immunology: 90% of patients have positive ANA on indirect immunofluorescence; this group of patients shows subsets of mutually exclusive auto-antibodies that are associated with distinct clinical phenotypes
• Environmental: exposure to silica dust and multiple solvents have been proposed, but no clear link has been identified