About Scleroderma

Scleroderma, or systemic sclerosis, is a chronic autoimmune disease, in which the body’s normal immune/defense system turns against itself. The word “scleroderma” means “hard skin.” Hardening of the skin is one of the most visible manifestations of the disease. Systemic sclerosis can involve most organs but frequently involves the lungs, heart, gastrointestinal system, tendons, and joints in addition to the skin and may be life-threatening. Scleroderma is not contagious, infectious, or cancerous.

The diagnosis of scleroderma requires a history and an examination by a knowledgeable physician and may require a rheumatologist (autoimmune disease specialist), a dermatologist (skin specialist) and other specialists. It will require blood tests and other specialized tests.

About 80% of people who have systemic sclerosis are women. It is estimated that about 300,000- 700,000 Americans have scleroderma. About 2.5 million persons world-wide have scleroderma. Scleroderma occurs most frequently between the ages of 25 and 55 years, although it can begin at nearly any age. About one third of those with scleroderma have the systemic form of scleroderma. 

Localized scleroderma: Skin changes are patchy and usually stay in the skin. Localized scleroderma does not involve the internal organs except perhaps the esophagus.

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Systemic scleroderma (systemic sclerosis): Can involve the joints, skin, heart, lungs, gastrointestinal tract, kidneys, bladder, nerves, muscles, blood vessels, joints, etc. The end result of this form of scleroderma is hardening and fibrosis of the organs. There are 2 major recognized patterns of systemic sclerosis – diffuse or limited disease.

• Diffuse: Skin thickening occurs rapidly and affects more skin than the limited form of the disease. Diffuse scleroderma patients have a higher risk of involving the internal organs than limited scleroderma patients.

• Limited: Skin thickening is less widespread (face, distal arms, hands, legs and feet). Although internal organs are involved, they are less frequent and tend to be less severe than diffuse scleroderma.

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The symptoms of scleroderma vary greatly from person to person and most people with scleroderma do not develop all the symptoms and signs of the illness. Symptoms of scleroderma may be obvious, such as when the skin is involved, or may be invisible, such as when the lungs or other internal organs are involved.

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• Raynaud’s phenomenon is present at one time or another in about 90 – 95% of patients. Raynaud’s phenomenon results from constriction of the blood vessels so the fingers/toes, etc. become white (blood vessel constriction), then blue (loss of oxygen) then red (reflex opening).

• Skin thickening: Inflammation and fibrosis of the skin can lead to the “hard skin” from which scleroderma gets its name.

• Ulcerations: Skin sores are common in the systemic form of scleroderma. They may be slow or difficult to heal. They may develop on the knuckles, elbows, toes or other sites.

• Calcinosis deposits may occur in or under the skin and be felt as hard lumps which may be painful.

• Telangectasia are dilated small blood vessels near the surface of the skin, which become visible as small red spots. They are usually on the fingers, palms, face and lips.

• Musculoskeletal Involvement: Swelling or puffiness of the hands is a typical symptom of scleroderma and often occurs early in the disease. The skin of the fingers may look and feel swollen and tight, so making a fist may be difficult. There may also be pain, swelling or stiffness in the joints.

• Lungs: Both inflammation and fibrosis may affect any lung tissue which interferes with transfer of oxygen from the air into the blood vessels. Symptoms of lung involvement include shortness of breath, difficulty exercising and functioning, and cough. Interstitial lung disease (ILD) can occur when there is a buildup of fibrosis/scar tissue in the lung. Pulmonary hypertension is increased blood pressure in the blood vessels of the lung.

• Heart involvement may have symptoms like palpitations and fluid on the legs. This can occur in up to 30 – 40% of patients, although heart involvement rarely causes severe symptoms.

• Kidney involvement in scleroderma may be quite mild or very serious. Early signs include mild high blood pressure and blood test abnormalities which may not progress. Renal crisis, a very dangerous problem in systemic sclerosis, results from rapid blood vessel damage in the kidneys

• Gastrointestinal Tract: People with systemic sclerosis may develop problems in the gastrointestinal tract including esophagus, stomach and bowels. Fibrosis can develop in the gastrointestinal muscles resulting in abnormal movement of the gastrointestinal tract as well as food and nutrients not being well absorbed.