AN AUTOIMMUNE DISORDER THAT AFFECTS THE SKIN
Scleroderma is not well understood, but is believed to be an autoimmune condition. The term “scleroderma” means, literally, “hard skin,” which refers to the smooth, tightened or thickened areas of skin that are a common sign of the disorder.
Scleroderma is a relatively rare disease. It is estimated that approximately 300,000 Americans have been diagnosed with the disorder. The disease affects all age groups, but is most commonly seen in women between the ages of 25 and 55.
Diagnosing scleroderma can be difficult because the symptoms mimic many other diseases. A definite diagnosis is based on a medical history, physical examination and blood tests. Almost all patients with scleroderma have anti-nuclear antibodies in their blood. In addition, a number of scleroderma-specific antibodies may be present in the blood, which can facilitate diagnosis. A skin biopsy can be helpful in diagnosing scleroderma, but is not able to differentiate whether the limited or diffuse form of the disease is involved. There is no cure for scleroderma. Treatment is based on relieving symptoms, particularly those of dry skin and joint inflammation and pain. There are two forms of scleroderma: localized and systemic.
Localized scleroderma typically affects only a few areas of the skin or several muscles and joints. It is more common in children than adults, and rarely develops into the systemic form of the disease. Localized scleroderma is also known as morphea.
The second form of scleroderma is called systemic scleroderma. It is also known as systemic sclerosis. This form of the disease involves the skin, as well as the underlying connective tissues, including blood vessels, muscles, bones and joints. Systemic scleroderma may also affect major organs, such as the heart, lungs and kidneys.
A diagnosis of systemic scleroderma is usually further classified as one of three types:
Limited scleroderma. This type of systemic scleroderma typically develops slowly over a period of years. It usually affects the skin only on the hands and face. People with limited scleroderma may experience Raynaud’s phenomenon (explained below) for years before the thickened, hard skin symptoms characteristic of scleroderma develop. Limited scleroderma is sometimes called CREST syndrome.
The term CREST is an acronym for the five major characteristics of the disorder:
• C – Calcinosis. This refers to the formation of calcium deposits under the skin. These are seen as hard, white areas on the skin, usually on the elbows, knees or fingers. Not all patients with limited scleroderma have calcinosis.
• R – Raynaud’s phenomenon. Raynaud’s phenomenon is a condition in which the small blood vessels of the fingers or toes narrow in response to cold temperatures or emotional upset. As the vessels contract, the skin turns white, then blue. As blood flow returns, the skin become reddened. Raynaud’s (pronounced ray-noze) phenomenon can occasionally damage the tissue, which may result in skin ulcers, scarring or gangrene.
• E – Esophageal involvement. This is most often described as difficulty in swallowing, due to a poorly functioning muscle in the lower part of the esophagus.
This condition can lead to stomach acid backflow into the esophagus, which can cause heartburn, inflammation and scarring.
• S – Sclerodactyly. This refers to the thickening and tightening of the skin of the fingers, which results in a shiny and slightly puffy appearance. Skin tightening can limit mobility.
• T – Telangietasia. This refers to small areas of redness that most frequently appear on the face, hands and mouth.
Diffuse scleroderma. Diffuse scleroderma typically develops over a shorter time frame than the limited type of the disease. The skin symptoms occur quickly and spread over most of the body. Skin thickening may affect the face, chest and stomach, as well as the upper arms and legs. Like RA, the affected areas are often symmetric. This means that if one side of the body or a limb is involved, the other side is also affected.
Diffuse scleroderma may also affect the heart, lungs or kidneys. Diffuse scleroderma is often cyclical. The disease may be active for several years, followed by a quiet period during which skin symptoms remain stable and joint pain and fatigue lessen.
Sine scleroderma. In recent years, a third type of systemic scleroderma has been identified to describe the form of the disease that causes changes to the internal organs, but without hardening or tightening of the skin. This type of systemic sclerosis is called “sine scleroderma.” In Latin, “sine” means “without,” which refers to the lack of skin involvement in this form of systemic scleroderma.
Scott Zashin, MD, PA is a respected Texas scleroderma Doctor/Specialist in Dallas. The above information about scleroderma is from his arthritis book: Arthritis Without Pain, a comprehensive guide for patients considering or undergoing treatment with the TNF blockers Enbrel®, Remicade®, or Humira®. All rights reserved.