Systemic sclerosis (SSc), or: scleroderma, is a clinically heterogeneous, systemic disorder which affects the connective tissue of the skin, internal organs and the walls of blood vessels.
It is characterized by alterations of the microvasculature, disturbances of the immune system and by massive deposition of collagen and other matrix substances in the connective tissue. SSc is a rare chronic disease of unknown cause characterised by diffuse fibrosis, degenerative changes, and vascular abnormalities in the skin, joints, and internal organs, especially of the esophagus, lower gastrointestinal tract, lungs, heart, and kidneys. Systemic sclerosis is more common in women. It can be mild or severe.
Common symptoms include Raynaud’s syndrome, polyarthralgia, dysphagia, heartburn, and swelling and eventually skin tightening and contractures of the fingers. Lung, heart, and kidney involvement accounts for most deaths. Diagnosis can be obvious in patients with combinations of classic manifestations, such as Raynaud’s syndrome, dysphagia, and tight skin.
However, in some patients, diagnosis cannot be made clinically, and confirmatory laboratory tests can increase the probability of disease but do not rule it out. Antinuclear antibodies (ANA) are present in more than 90%. Centromere antibodies occur in the serum of a high proportion of patients with CREST syndrome, and is detectable on the ANA. Patients with diffuse scleroderma are more likely than those with CREST to have Scl-70 antibodies. Rheumatoid factor also is positive in one third of patients.
Specific treatment is difficult, and emphasis is often on treatment of complications.
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