Systemic sclerosis (SSc), also known as scleroderma is an autoimmune disorder, generalized of small arteries, microvessels and connective tissue. It is characterized by a buildup of scar tissue (fibrosis) in the skin and organs, particularly the lungs, heart, and digestive tract. The prevalence is estimated at about 1/6,500 adults, with women being four times more likely to develop the condition than men. Systemic sclerosis usually appears in women aged 30-40 years, and it occurs in slightly older men. Raynaud's phenomenon is usually the first sign of all types of disease, and other sings may occur weeks to years later. There are three types of scleroderma, diffuse cutaneous, limited cutaneous and limited Systemic Sclerosis or Systemic sclerosis sine scleroderma. The Limited systemic scleroderma type fibrosis usually affects only the hands, arms, and face. Common symptoms of this condition include calcinosis, Raynaud phenomenon, esophageal motility dysfunction, sclerodactyly, and telangiectasia. It was named CREST syndrome according to these features. In the cutaneous systemic scleroderma, the fibrosis affects larger areas of skin, including the torso and the upper arms and legs, and often involves internal organs. In this type, the disease worsens quickly and causes organ damage that occurs earlier than in other types. In the systemic sclerosis sine the fibrosis affects one or more internal organs, but not the skin.
Diagnosis of systemic sclerosis is based on the clinical manifestations and on evidence of specific microangiopathy with giant loops on capillaroscopy. Blood tests could be done for the presence of the antinuclear autoantibodies. In order to diagnose disease progression, computed tomography (CT), electrocardiogram, echocardiography, radiography of the hands and esophageal and gastric fibroscopy should be done. There is no specific treatment for scleroderma. Management is mostly symptomatic. Some of the medicines that treat scleroderma include calcium channel blockers for Raynaud's phenomenon, corticosteroids, drugs that suppress the immune system such as methotrexate and Cytoxan, and nonsteroidal anti-inflammatory drugs (NSAIDs).
There are some candidate genes that may influence the risk of developing systemic sclerosis. Some genes were found to be associated with the disease, including HLA, IRF5, and STAT4. While most cases of systemic sclerosis are sporadic, some cases have been reported to run in families.