Systemic sclerosis (scleroderma) is a rare, chronic disorder characterized by degenerative changes and scarring in the skin, joints, and internal organs and by blood vessel abnormalities.

• Swelling of the fingers, intermittent coolness and blue discoloration of the fingers, joints freezing in permanent (usually flexed) positions (contractures), and damage to the gastrointestinal system, lungs, heart, or kidneys may develop.
• People often have antibodies in the blood characteristic of an autoimmune disorder.
• No treatment changes the course of the disorder.
• Symptoms and organ dysfunction are treated.

The cause of systemic sclerosis is not known. The disorder is 4 times more common among women than men and is rare among children. Symptoms of systemic sclerosis may occur as part of mixed connective tissue disease, and some people with mixed connective tissue disease develop severe systemic sclerosis. Systemic sclerosis can occur in limited forms, for example, sometimes affecting just the skin or mainly only certain parts of the skin or as CREST syndrome. However, systemic sclerosis often causes damage that is widespread throughout the body (called diffuse or generalized systemic sclerosis).

Symptoms

The usual initial symptom of systemic sclerosis is swelling, then thickening and tightening of the skin at the ends of the fingers. Raynaud's syndrome, in which the fingers suddenly and temporarily become very pale and tingle or become numb, painful, or both in response to cold or emotional upset (see Peripheral Arterial Disease: Raynaud's Syndrome), is also common. Fingers may become bluish. Heartburn, difficulty in swallowing, and shortness of breath are occasionally the first symptoms of systemic sclerosis. Aches and pains in several joints often accompany early symptoms. Sometimes inflammation of the muscles (polymyositis), with its accompanying muscle pain and weakness, develops.

Skin Changes: Systemic sclerosis can damage large areas of skin or only the fingers (sclerodactyly). Sometimes systemic sclerosis tends to stay restricted to the skin of the hands. Other times, the disorder progresses. The skin becomes more widely taut, shiny, and darker than usual. The skin on the face tightens, sometimes resulting in an inability to change facial expressions. Sometimes dilated blood vessels (telangiectasia often referred to as spider veins) can appear on the fingers, chest, face, lips, and tongue, and bumps composed of calcium can develop on the fingers, on other bony areas, or at the joints. Sores can develop on the fingertips and knuckles.

Scleroderma

Joint Changes: Sometimes, a grating sound can be felt or heard as inflamed tissues move over each other, particularly at and below the knees and at the elbows and wrists. The fingers, wrists, and elbows may become stuck (forming a contracture) in flexed positions because of scarring in the skin.

Gastrointestinal System Changes: Scarring commonly damages the lower end of the esophagus (the tube connecting the mouth and stomach). The damaged esophagus can no longer propel food to the stomach efficiently. Swallowing difficulties and heartburn eventually develop in many people who have systemic sclerosis. Abnormal cell growth in the esophagus (Barrett's esophagus—see Tumors of the Digestive System: Risk Factors) occurs in about 33% of the people, increasing their risk of esophageal blockage (stricture) due to a fibrous band or their risk of esophageal cancer. Damage to the intestines can interfere with food absorption (malabsorption) and cause weight loss.

Lung and Heart Changes: Systemic sclerosis can cause scar tissue to accumulate in the lungs, resulting in abnormal shortness of breath during exercise. The blood vessels that supply the lungs can be affected (their walls thicken), so they cannot carry as much blood. Therefore blood pressure within the arteries that supply the lungs can increase (a condition called pulmonary hypertension—see Pulmonary Hypertension). Systemic sclerosis can also cause several life-threatening heart abnormalities, including heart failure and abnormal rhythms.

Kidney Changes: Severe kidney disease can result from systemic sclerosis. The first symptom of kidney damage may be an abrupt, progressive rise in blood pressure. High blood pressure is an ominous sign, although treatment usually controls it.

CREST Syndrome: CREST syndrome, also called limited cutaneous systemic sclerosis (sclerosis) is usually a less severe form of the disorder that is less likely to cause serious internal organ damage. It is named for its symptoms: Calcium deposits in the skin and throughout the body, Raynaud's syndrome, Esophageal dysfunction, Sclerodactyly (skin damage on the fingers), and Telangiectasia (dilated blood vessels or spider veins). Skin damage is limited to the fingers. People who have CREST syndrome can develop pulmonary hypertension, which can cause heart and lung failure. The drainage system from the liver may become blocked by scar tissue (biliary cirrhosis), resulting in liver damage and jaundice.

Diagnosis

A doctor diagnoses systemic sclerosis by the characteristic changes in the skin and internal organs. The symptoms may overlap with those of several other disorders, but the whole pattern is usually distinctive. Laboratory tests alone cannot identify systemic sclerosis because test results, like the symptoms, vary greatly. However, antinuclear antibodies are present in the blood of more than 90% of people with systemic sclerosis. An antibody to centromeres (part of a chromosome) is often present in people who have CREST syndrome. A different antibody (called anti-topoisomerase) is often present in people with the more diffuse generalized form.

Prognosis

Sometimes systemic sclerosis worsens rapidly and becomes fatal. At other times, it affects only the skin for decades before affecting internal organs, although some damage to internal organs (such as the esophagus) is almost inevitable, even in CREST syndrome. The course is unpredictable. Overall, about 65% of people live for at least 10 years after the diagnosis is made. The prognosis is worst for those who have heart, lung, or, particularly, kidney damage.

Treatment

No drug can stop the progression of systemic sclerosis. However, drugs can relieve some symptoms and reduce organ damage. Nonsteroidal anti-inflammatory drugs (NSAIDs—see Pain: Nonsteroidal Anti-Inflammatory Drugs) help relieve joint pain. If the person has weakness because of polymyositis, corticosteroids may be needed. Drugs that suppress the immune system, such as cyclophosphamide and azathioprine, may help some people whose lungs are affected. Doctors treat severe pulmonary hypertension with the drugs bosentan or epoprostenol. The person may also be given anticoagulants.

Heartburn can be relieved by eating small meals, taking antacids, and using proton pump inhibitors, which block stomach acid production. Sleeping with the head of the bed elevated often helps. Areas of the esophagus narrowed by scar tissue can be surgically widened (dilated). Tetracycline or other antibiotics can help prevent malabsorption of food caused by excessive growth (overgrowth) of bacteria in the damaged intestine. A calcium channel blocker (such as nifedipine) may relieve the symptoms of Raynaud's syndrome (see Peripheral Arterial Disease: Raynaud's Syndrome) but may also increase the reflux of stomach acid. Drugs for high blood pressure, particularly angiotensin-converting enzyme (ACE) inhibitors, are useful in treating kidney disease and the rise in blood pressure.

Physical therapy and exercise can help to maintain muscle strength but cannot totally prevent joints from freezing in contractures.

Last full review/revision February 2008 by Rula A. Hajj-Ali, MD