Scleroderma is a slowly progressive disease characterized by deposits of fibrous connective tissue in the skin and often the internal organs.
As of 2016, scientists were not sure what causes scleroderma. It was thought to be a type of autoimmune disease * . Ordinarily, the function of the immune system * is directed only against such foreign agents as viruses, bacteria, or fungi, which threaten the body's health. However, in the case of an autoimmune disease, the immune system becomes confused about what is foreign and what is self. The immune system begins to marshal its resources to attack the organs and tissues of the body, causing damage and destruction. In the case of scleroderma, it appears that the immune system's attack on connective tissue prompts an inflammatory response and the overproduction of collagen—an insoluble fibrous protein and the chief component of connective tissue. The accumulation of excess collagen causes the signs and symptoms of scleroderma.
Scleroderma tends to strike people between 30 and 50 years of age. Women are four times as likely as men to develop this condition. Only about four to 12 individuals per 12 million people are diagnosed yearly, although a higher number of mild cases may occur without diagnosis. People of African descent are more likely to have the disease than people of European descent, and African Americans are also more likely to have severe lung disease as a component of their condition. Other risk factors for the development of scleroderma include exposure to silica dust, paint thinners, and chemotherapy * agents.
Symptoms of scleroderma include thickening, tightening, and hardening of the skin, especially the skin of the fingers and hands; the appearance of hard deposits of calcium in the skin and connective tissues; inflammation of the esophagus *
Scleroderma may be suspected based on the presence of characteristic symptoms, coupled with knowledge of the individual's personal or family history. A physical examination may reveal red, swollen, shiny, tight skin on the hands, as well as other signs of abnormal collagen production. A number of specific blood tests may be performed in order to demonstrate the presence of an autoimmune and connective tissue disorder. Tests may include antinuclear antibody testing, rheumatoid factor, erythrocyte sedimentation rate, and tests for a variety of other autoantibodies (antibodies that are directed against the individual's body). Other blood tests may be performed in order to assess the functioning of various organs that may be affected. Biopsies * of affected organs may also help make the diagnosis, and specific imaging tests or function tests may demonstrate the effect that scleroderma has on specific organ systems.
As of 2016 there was no cure for scleroderma. Treatments are aimed at calming the overactive immune system and suppressing inflammation throughout the body. Medications used may include nonsteroidal antiinflammatory agents, steroid drugs, and immunosuppressant agents such as those used to prevent organ rejection after transplant (methotrexate, cyclophosphamide, D-penicillamine). Medications that can dilate blood vessels may be used to treat Raynaud's phenomenon. Other treatments are focused on the specific affected organ systems. In very advanced cases of scleroderma, when lung or kidney damage is severe, lung or kidney transplant may be recommended.
See also Autoimmune Disorders: Overview • Collagen Vascular Diseases: Overview • Raynaud's Disease • Skin Conditions: Overview
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American College of Rheumatology. 2200 Lake Blvd. NE, Atlanta, GA 30319. Telephone: 404-633-3777. Website: http://www.rheumatology.org (accessed July 6, 2016).
National Institute of Arthritis and Musculoskeletal and Skin Diseases. 1 AMS Cir., Bethesda, MD 20892-2520. Toll-free: 877-226-4267. Website: http://www.niams.nih.gov (accessed July 6, 2016).
Scleroderma Foundation. 300 Rosewood Dr., Suite 105, Danvers, MA 01923. Toll-free: 800-722-4673. Website: http://www.scleroderma.org (accessed July 6, 2016).
* gastrointestinal (gas-tro-in-TEStih-nuhl) means having to do with the organs of the digestive system, the system that processes food. It includes the mouth, esophagus, stomach, intestines, colon, rectum, and other organs involved in digestion, including the liver and pancreas.
* autoimmune disease (aw-toh-ih-MYOON) disease is a disease in which the body's immune system attacks some of the body's own normal tissues and cells.
* immune system (im-YOON) is the system of the body composed of specialized cells and the substances they produce that helps protect the body against disease-causing germs.
* chemotherapy (KEE-mo-THER-apee) is the treatment of cancer with powerful drugs that kill cancer cells.
* esophagus (eh-SAH-fuh-gus) is the soft tube that, carries food from the throat to the stomach.
* biopsies (BI-op-seez) are tests in which small samples of skin or other body tissue are removed and examined for signs of disease.