Scleroderma

An autoimmune disease* of the connective tissue. Scleroderma is characterized by the formation of scar tissue (fibrosis) in the skin and organs of the body. This leads to thickness and firmness of involved areas. Scleroderma is also referred to as systemic sclerosis.

Cause

• The cause of scleroderma is not known.
• Researchers have found some evidence that genes are important factors, but the environment seems to also play a role. This means that inheritance at least play a partial role. It is not unusual to find other autoimmune diseases in families of scleroderma patients

2 Forms:

1. The diffuse form of scleroderma is involves: symmetric thickening of skin of the extremities, face, trunk (chest, back, abdomen, or flanks) which can rapidly progress to hardening after an early inflammatory phase. Organ disease can occur early on and be serious. Organs affected include the esophagus, bowels, lungs with scarring (fibrosis), heart, and kidneys. High blood pressure can be a troublesome side effect.
2. The limited form of scleroderma tends to be confined to the skin of the fingers and face. The skin changes and other features of disease tend to occur more slowly than in the diffuse form. Because a characteristic clinical pattern can occur in patients with the limited form of scleroderma, this form has taken another name which is composed of the first initials of the common components. Thus, this form is also called the CREST variant of scleroderma. This name represents the following features:

C.....Calcinosis, refers to the formation of tiny deposits of calcium in the skin. This is seen as hard whitish areas in the superficial skin, commonly overlying the elbows, knees, or fingers. These firm deposits can be tender, can become infected, and can fall off spontaneously or require surgical removal. This is the least common of the CREST scleroderma variant features.

R.....Raynaud's phenomenon refers to the spasm of the tiny artery vessels supplying blood to the fingers, toes, nose, tongue, or ears. These areas turns blue, white, then red after exposure to extremes of cold, or even sometimes with extremes of heat or emotional upset. For more information, please read the Raynaud's Phenomenon article.

E.....Esophagus disease in scleroderma is characterized by poorly functioning muscle of the lower 2/3 of the esophagus. This can lead to an abnormally wide esophagus which allows stomach acid to backflow into the esophagus to cause heartburn, inflammation, and potentially scarring. This can eventually lead to difficulty in passing food from the mouth through the esophagus into the stomach. Symptoms of heartburn are treated aggressively in patients with scleroderma in order to prevent injury to the esophagus.

S.....Sclerodactyly refers to the localized thickening and tightness of the skin of the fingers or toes. This can give them a "shiny" and slightly puffy appearance. The tightness can cause severe limitation of motion of the fingers and toes. These skin changes generally progress much slower that those of patients with the diffuse form of scleroderma.

T.....Telangiectasias are tiny red areas, frequently on the face, hands and in the mouth behind the lips. These areas blanch when they are pressed upon and represent dilated capillaries.

Lab diagnosis:

• The diagnosis of the scleroderma syndrome is based on the finding of the clinical features of the illnesses.
• Nearly all patients with scleroderma have blood tests which suggest autoimmunity, antinuclear antibodies (ANAs).
• A particular antibody, the anticentromere antibody, is found almost exclusively in the limited, or CREST, form of scleroderma. Anti-Scl 70 antibody (antitopoisomerase I antibody) is most often seen in patients with the diffuse form of scleroderma.
  

Treatment:

• Treatment of scleroderma is directed toward the individual feature(s) that is most troubling.
• No medication has been found to be universally effective for all patients with scleroderma. In an individual patient the illness may be mild, and not require treatments. In some, the disease is ravaging and relentless.

Prognosis:

• A patient's prognosis is optimized with close monitoring of overall health status and treatment of complications, especially elevated blood pressure.
• Recent data indicates that the critical period of organ risk is generally within the first three years of skin involvement. This means that patients can be reassured that their risk of organ-threatening complications is significantly less after three years of having skin symptoms.