SCLERODERMA

Scleroderma is an autoimmune disease of the connective tissue. Autoimmune diseases are illnesses which occur when the body’s tissues are attacked by its own immune system. 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, when it’s diffuse or widespread over the body, is also referred to as systemic sclerosis.

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. The result is activation of the immune system, causing injury to tissues that result in injury similar to scar tissue formation. The fact that genes seem to cause a predisposition to developing scleroderma means that inheritance at least plays a partial role. It is not unusual to find other autoimmune diseases in families of scleroderma patients. Some evidence for the role genes may play in leading to the development of scleroderma comes from the study of Choctaw Native Americans who are the group with the highest reported prevalence of the disease. The disease is more frequent in females than in males.

Scleroderma can be classified in terms of the degree and location of the skin involvement. Accordingly, scleroderma has been categorized into two major groups, diffuse and limited.

The diffuse form of scleroderma (systemic sclerosis) involves symmetric thickening of skin of the extremities, face, and 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.

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.

E…Esophagus disease in scleroderma is characterized by poorly functioning muscle of the lower two-thirds 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.

The symptoms of scleroderma depend on the type of scleroderma present and the extent of external and internal involvement in the individual affected. Because scleroderma can affect the skin, esophagus, blood vessels, kidneys, lungs, blood pressure and bowels, the symptoms it causes can involve many areas of the body.

Scleroderma affects the skin to cause local or widespread signs of inflammation (redness, swelling, tenderness, itching, and pain) that can lead to skin tightness or hardening. These skin changes can be widespread, but it’s most common for them to affect the fingers, feet, face, and neck. This can lead to decreased range of motion of the fingers, toes, and jaw. Tiny areas of calcification (calcinosis), while not common, can sometimes be noticed as hard nodules at the tips of the elbows or in the fingers.

Scleroderma affecting the esophagus leads to heartburn. This is directly a result of stomach acid flowing back up into the esophagus. Sometimes this can lead to scarring of the esophagus with difficulty swallowing and/or localized pain in the central chest.

Blood vessels that can be affected include the tiny arterioles of the finger tips, toes, and elsewhere. These vessels can have a tendency to spasm when the areas are exposed to cold, leading to blueness, whiteness, and redness of involved fingers, toes, and sometimes nose or ears. These color changes are referred to asRaynaud’s phenomenon. Raynaud’s phenomenon can cause inadequate supply of oxygen to the involve tips of fingers or toes, causing tiny ulcers or blackened (dead) skin. Sometimes Raynaud’s phenomenon is also associated with tingling. Other blood vessels that can be involved in scleroderma are the tiny capillaries of the face, lips, mouth, or fingers. These capillaries widen (dilate) forming tiny, red blanching spots, called telangiectasias.

Elevated blood pressure is potentially serious and can lead to kidney damage. Symptoms include headache, fatigue, and in severe cases, stroke.

Inflammation of the lungs in scleroderma can cause scarring, resulting in shortness of breath, especially with physical exertion. Elevated pressure in the arteries to the lungs (pulmonary hypertension) can also cause shortness of breath and difficulty getting an adequate breath with activity.

Scleroderma affecting the large bowel (colon) most often causes constipation but can also lead to cramping and diarrhea. When this is severe, it complete stool blockage (fecal impaction) can result.