Systemic Sclerosis/Scleroderma

Systemic Sclerosis/Scleroderma (SSc) is a generalised autoimmune disorder characterised by progressive thickening of the skin due to deposition of collagen.  This can also affect visceral organs such as the gut, lungs, heart, kidneys and muscles. Commonly patients also suffer from Raynaud’s phenomenon, cold, numbness and discolouration of the digits precipitated by cold due to vasospasm. SSc is thought to occur at an incidence of around 25 cases per million in the United States.

SSc-specific autoantibodies associated with distinct clinical phenotypes provide valuable diagnostic information. Antibodies to CENP-A and CENP-B are mainly associated with CREST syndrome. Antibodies to Scl-70 present with an increased frequency of pulmonary fibrosis, diffuse disease and a poorer prognosis. Other antigens that can assist with diagnosis are RNA polymerase III, Pm/Scl-75, Pm/Scl-100 and Ku.

References:
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Poormohgim et al, Arthritis Rheum. 2000 43:444-451
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Cepeda EJ and Reveille JD, Curr Opin Rheumatol 2004 16:723-732
Mayes MD, Arthritis Rheum 2003 29(2):239-254