Scleroderma

Women are about four times more likely than men to be afflicted with scleroderma, a chronic, autoimmune disease that most often strikes women during middle age. It can cause hardening and thickening of the skin and attack the heart, lungs, kidneys and gastrointestinal tract.

The disease is caused by an overproduction of collagen in your body's connective tissue. Collagen is normally responsible for keeping your skin and organs supple, but when it is overproduced, it makes tissue thick and immobile.

Scleroderma literally means "hard skin," but the disease is most serious when it affects internal organs, hardening the tissues of the lungs, heart, kidneys, intestinal tract, muscles and joints. This stiffening can seriously harm the circulatory, digestive and respiratory systems.

According to the Scleroderma Foundation, an estimated 300,000 people in the United States have the disease in one of its forms.

What causes scleroderma is unknown, but some early stage research suggests the involvement of both environmental and genetic factors. It appears likely that some people are genetically predisposed to scleroderma, but that the disease only arises when some environmental factor or combination of factors—exposure to certain chemicals, for example—triggers it. Though scleroderma affects members of all ethnic groups, researchers have found a high prevalence of the disease in Oklahoma Choctaw Native Americans. Additionally, African-American women seem to be more seriously affected when they get the disease. These facts reinforce the notion that there are chromosomal factors at work.

Researchers have discovered autoantibodies in scleroderma patients that are not seen in other autoimmune diseases. Learning how and why these antibodies form will lead to better understanding of the mechanisms that underlie this disorder.

Despite a possible genetic component, the disease isn't considered hereditary; it is rare for two close relatives to develop the disease. And scleroderma is not contagious.

Occupational exposure to silica dust (not silicone) has been linked to a scleroderma-like disease, particularly in men.

Exposure to solvent mixtures used in paint thinners and removers have been reported to increase the risk of scleroderma in women, according to a study reported in the March 2003 edition of the American Journal of Epidemiology. However, a similar more recent review published in the Journal of Rheumatology revealed that although scleroderma affects women more than men, among people who have been exposed to solvents, men are at a greater risk of the disease.

Scleroderma is categorized as an autoimmune disease. Such diseases develop when the immune system turns its infection-fighting weapons including antibodies against the body's own healthy tissues. In scleroderma, the body produces specific autoantibodies. Blood tests for these antibodies are useful in defining the seriousness of the disease, although they are not present in all patients.

The disorder seems to be resistant to some drugs designed to suppress the immune system. The disease is extremely complex and highly individualized. If you suspect you have scleroderma, you should seek a health care professional with experience diagnosing and treating the disease, since many physicians are not well versed in its intricacies.

Diagnosing scleroderma in its mildest forms can challenge even the most experienced health care professional, whereas the diagnosis is more straightforward if there is extensive skin thickening. Sometimes, the disease manifests itself in mild symptoms, but it can also be life threatening. While symptoms and outcomes vary greatly, scleroderma is divided into two broad categories:

Localized scleroderma is the milder version, and the skin is usually the only organ affected. In one manifestation, called morphea, oval patches of inflamed and discolored skin may appear on the body. Many people with morphea will improve spontaneously over time. In linear scleroderma, a band or bands of skin may be thickened on the trunk or extremities. Usually affecting children under 18, linear scleroderma may be associated with loss or decreased growth of deep tissue or bone structure. When this type of scleroderma occurs on the face, it's called en coup de sabre, French for "a strike of the sword." While disfiguring, linear scleroderma isn't considered a serious threat to ability to function. Localized scleroderma almost never develops into the more serious systemic form of the disease.

Systemic sclerosis may affect connective tissue in various parts of your body (such as skin, the esophagus, gastrointestinal tract, lungs, kidneys, heart and other internal organs). It can also affect blood vessels, muscles and joints. This form of scleroderma can lead to disfigurement, serious disability, organ failure and early death. Systemic sclerosis also comes in two forms:

Limited cutaneous systemic sclerosis. Skin thickening is confined to extremities below the elbows and knees and to the face and neck. In limited sclerosis the course is usually much slower and less severe for many years, although severe lung involvement can occur after 10 to 20 years.
Diffuse cutaneous systemic sclerosis. Skin manifestations are more widespread, and internal organs—particularly the kidney, lungs and heart—may also be affected. This form of scleroderma can hinder the functions of your digestive system, create respiratory problems and cause kidney failure. If it goes untreated, systemic scleroderma may be fatal within a few years of onset.
Some patients who may have either limited or diffuse systemic sclerosis also have what is known as CREST syndrome, which is characterized by:

Calcinosis (accumulation of calcium deposits under the skin that may cause pain)

Raynaud's phenomenon (characterized by a change in skin color of the fingers or toes due to cold)

Esophageal dysfunction (caused by stiffening of the gastrointestinal tract muscles; gastroesophageal reflux, a form of indigestion, is a common result)

Sclerodactyly (hardening of skin of the fingers or toes)

Telangiectasia (tiny blood vessels near the surface of the skin that show through as round, red spots)