Developments into understanding the pathogenesis of systemic sclerosis

Systemic sclerosis (SSc) is a severe, chronic autoimmune disease of the connective tissue. The disease typically becomes clinically apparent on the skin and subsequently spreads to several internal organs, in particular the gastrointestinal system, lung, heart and kidney (in decreasing frequency). The pathogenesis evolves via activation of the vascular and immune system, finally leading to a fibrotic response of the connective tissue and resulting in progressive dysfunction of the affected organs. Although the etiology still remains elusive, the knowledge of genetic factors associated with SSc has increased remarkably in recent years. It can be shown that SSc shares a number of genetic risk factors with other autoimmune diseases, in particular lupus erythematosus. New pathways such as Wnt signaling have been identified, which improve our understanding of the initiation of fibrosis in this still enigmatic disease. The enhanced insight into distinct steps of the organotypic pathophysiology of SSc, for examp...