Scleroderma–Systemic Sclerosis

Systemic sclerosis is an orphan disease of unknown cause and complex pathogenesis. Multiple genetic variants that are common to systemic lupus, and other autoimmune diseases have been identified. Autoimmunity and fibrosis are prominent features of the disease. Systemic sclerosis predominantly affects women, follows a chronic and unpredictable course with multiple organs affected, and lacks effective disease-modifying therapies. In addition to variable degree of skin involvement and Raynaud phenomenon, interstitial lung disease, widespread microvascular disease, intestinal tract pathology, and cardiovascular complications are common. Late-stage disease is usually accompanied by ischemic digital ulcers, pulmonary artery hypertension, pulmonary fibrosis, and small bowel dysfunction. The diffuse cutaneous form of the disease is associated with increased mortality. Although there are no approved disease-modifying therapies, carefully tailored and individualized management of specific organ-based complications can be highly effective in improving quality of life, reducing complications, and improving outcomes.