Scleroderma, sometimes called systemic sclerosis, is a chronic autoimmune disorder involving the skin and sometimes other organs. It may be thought of as a related group of disorders with varying symptoms, all categorized by the accumulation of abnormal fibrous (scar) tissue. Some individuals have what is called “localized scleroderma,” with symptoms limited to certain areas of the skin. Other patients have what is called “diffuse scleroderma,” involving more of the skin and sometimes the internal organs as well.
Often the first symptom is thickening, tightening, and hardening of the skin at the end of the fingers—the skin feels leathery, and may ultimately become shiny and darker than usual. This thickening and hardening may begin to affect other areas, such as the forearms, face, neck, and trunk. Sometimes these hardened areas develop painful sores. Some patients develop Raynaud’s phenomenon, often a very early sign of the disorder, in which the fingers suddenly become very pale, numb, or painful in response to cold or psychological triggers. Some patients show dilated blood vessels on the fingers, face, or other regions, termed telangiectasias, and others develop bumpy calcium deposits on the fingers, joints, or other areas.
Swallowing difficulties and heartburn are relatively common in individuals with scleroderma due to due to scarring at the lower end of the esophagus. Sometimes damage to the small intestine can cause weight loss and lead to difficulty absorbing nutrients. Aches and pains in the joints, and in some cases muscle pain and weakness, can occur. The disease may affect the kidneys, which may cause blood pressure to rise dramatically; sometimes individuals go into kidney failure requiring dialysis. Lung involvement is fairly common, causing shortness of breath and increased blood pressure in the lungs (pulmonary hypertension). This can ultimately lead to heart failure. In some cases, the disease results in abnormal heart rhythms as well.
In general, scleroderma shares many features with the other autoimmune diseases, for example, lupus, rheumatoid arthritis, and polymyositis. It is also not uncommon to have features of other autoimmune diseases, like dry eyes and mouth (as in Sjogren’s syndrome), autoimmune mediated hypothyroidism (Hashimoto’ss), or autoimmune liver disease (primary biliary cirrhosis).
Some patients with many of the symptoms of scleroderma may be classified as having “mixed connective tissue disease.” This group of patients has some overlapping symptoms to scleroderma, lupus, polymyositis, and rheumatoid arthritis, as well as a specific antibody found on blood tests (anti U1 RNP). It is unclear at present whether mixed connective tissue disease should be considered a distinct disease or whether it merely represents a specific subgroup of individuals who have these various conditions.
The progression of scleroderma varies. In general, the disease tends to be more severe in African Americans, particularly African American women. The disease often goes through periods of progression and remission. In individuals with localized scleroderma, skin involvement occurs only in the fingers, forearms, and face. An individual may progress from early skin changes to more dramatic skin changes; e.g., the fingers may become permanently flexed from scarring. Involvement of the internal organs may be nonexistent at first, and may only occur in a limited way after many years.
Individuals with diffuse scleroderma often show a different pattern, with rapid involvement of other organs, such as the kidneys and lungs. Not all of these patients show rapid involvement of other organs however—progression is highly variable. In some cases the disorder may ultimately prove fatal, through involvement of the kidneys, lungs, or heart. At present no treatment can halt the progression of scleroderma, though drugs can help relieve certain symptoms and reduce overall organ damage.
About the Author
Ruth J. Hickman, MD, is a freelance health, science, and medical writer. She specializes in writing about medical topics for the lay public and for health science students. She can be reached at [email protected] or through her website: ruthjhickmanmd.com.
This blog post was originally published by AutoimmuneMom.com, written by Ruth J. Hickman, MD, and first published on Jun 5, 2013.