Scleroderma Health Article

Definition

Scleroderma is a progressive disease that affects the skin and connective tissue (including cartilage, bone, fat, and the tissue that supports the nerves and blood vessels throughout the body). There are two major forms of the disorder. The type known as localized scleroderma mainly affects the skin. Systemic scleroderma, which is also called systemic sclerosis, affects the smaller blood vessels and internal organs of the body.

Description

Scleroderma is an autoimmune disorder, which means that the body's immune system turns against itself. In scleroderma, there is an overproduction of abnormal collagen (a type of protein fiber present in connective tissue). This collagen accumulates throughout the body, causing hardening (sclerosis), scarring (fibrosis), and other damage. The damage may affect the appearance of the skin, or it may involve only the internal organs. The symptoms and severity of scleroderma vary from person to person.

Genetic profile

The role of genetics in the transmission in scleroderma is unclear. Some cases clearly run in families, but most occur in people without any family history of the disease.

Demographics

Scleroderma occurs in all races of people all over the world, but it affects about four females for every male. Among children, localized scleroderma is more common, and systemic sclerosis is comparatively rare. Most patients with systemic sclerosis are diagnosed between ages 30 and 50. In the United States, about 300,000 people have scleroderma. Young African American women and Native Americans of the Choctaw tribe have especially high rates of the disease.

Signs and symptoms

The cause of scleroderma is still uncertain. Although the accumulation of collagen appears to be a hallmark of the disease, researchers do not know why it occurs. Some theories suggest that damage to blood vessels may cause the tissues of the body to receive an inadequate amount of oxygen–a condition called ischemia. Some researchers believe that the resulting damage causes the immune system to overreact, producing an autoimmune disorder. According to this theory of scleroderma, the immune system gears up to fight an invader, but no invader is actually present. Cells in the immune system, called antibodies, react to the body's own tissues as if they were foreign. The antibodies turn against the already damaged blood vessels and the vessels' supporting tissues. These immune cells are designed to deliver potent chemicals in order to kill foreign invaders. Some of these cells dump these chemicals on the body's own tissues instead, causing inflammation, swelling, damage, and scarring.

Most cases of scleroderma have no recognizable triggering event. Some cases, however, have been traced to exposure to toxic (poisonous) substances. For example, coal miners and gold miners, who are exposed to high levels of silica dust, have above-average rates of scleroderma. Other chemicals associated with the disease include polyvinyl chloride, benzine, toluene, and epoxy resins. In 1981, 20,000 people in Spain were stricken with a syndrome similar to scleroderma when their cooking oil was accidentally contaminated. Certain medications, especially a drug used in cancer treatment called bleomycin (Blenoxane), may lead to scleroderma. Some claims of a scleroderma-like illness have been made by women with silicone breast implants, but a link has not been proven in numerous studies.

Symptoms of systemic scleroderma

A condition called Raynaud's phenomenon is the first symptom in about 95% of all patients with systemic scleroderma. In Raynaud's phenomenon, the blood vessels of the fingers and/or toes (the digits) react to cold in an abnormal way. The vessels clamp down, preventing blood flow to the tip of the digit. Eventually, the flow is cut off to the entire finger or toe. Over time, oxygen deprivation may result in open ulcers on the skin surface. These ulcers can lead to tissue death (gangrene) and loss of the digit. When Raynaud's phenomenon is the first sign of scleroderma, the next symptoms usually appear within two years.

SKIN AND EXTREMITIES Involvement of the skin leads to swelling underneath the skin of the hands, feet, legs, arms, and face. Swelling is followed by thickening and tightening of the skin, which becomes taut and shiny. Severe tightening may lead to abnormalities. For example, tightening of the skin on the hands may cause the fingers to become permanently curled (flexed). Structures within the skin are damaged (including those producing hair, oil, and sweat), and the skin becomes dry and scaly. Ulcers may form, with the danger of infection. Calcium deposits often appear under the skin.

In systemic scleroderma, the mouth and nose may become smaller as the skin on the face tightens. The small mouth may interfere with eating and dental hygiene. Blood vessels under the skin may become enlarged and show through the skin, appearing as purplish marks or red spots. This chronic dilation of the small blood vessels is called telangiectasis.

Muscle weakness, joint pain and stiffness, and carpal tunnel syndrome are common in scleroderma. Carpal tunnel syndrome involves scarring in the wrist, which puts pressure on the median nerve running through that area. Pressure on the nerve causes numbness, tingling, and weakness in some of the fingers.

DIGESTIVE TRACT The tube leading from the mouth to the stomach (the esophagus) becomes stiff and scarred. Patients may have trouble swallowing food. The acid contents of the stomach may start to flow backward into the esophagus (esophageal reflux), causing a very uncomfortable condition known as heartburn. The esophagus may also become inflamed.

The intestine becomes sluggish in processing food, causing bloating and pain. Foods are not digested properly, resulting in diarrhea, weight loss, and anemia. Telangiectasis in the stomach or intestine may cause rupture and bleeding.

RESPIRATORY AND CIRCULATORY SYSTEMS The lungs are affected in about 66% of all people with systemic scleroderma. Complications include shortness of breath, coughing, difficulty breathing due to tightening of the tissue around the chest, inflammation of the air sacs in the lungs (alveolitis), increased risk of pneumonia, and an increased risk of cancer. For these reasons, lung disease is the most likely cause of death associated with scleroderma.

The lining around the heart (pericardium) may become inflamed. The heart may have greater difficulty pumping blood effectively (heart failure). Irregular heart rhythms and enlargement of the heart also occur in scleroderma.

Kidney disease is another common complication. Damage to blood vessels in the kidneys often causes a major rise in the person's blood pressure. The blood pressure may be so high that there is swelling of the brain, causing severe headaches, damage to the retinas of the eyes, seizures, and failure of the heart to pump blood into the body's circulatory system. The kidneys may also stop filtering blood and go into failure. Treatments for high blood pressure have greatly improved these kidney complications. Before these treatments were available, kidney problems were the most common cause of death for people with scleroderma.

Other problems associated with scleroderma include painful dryness of the eyes and mouth, enlargement and destruction of the liver, and a low-functioning thyroid gland.