What is scleroderma?

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A rare autoimmune connective tissue disorder affecting various organs.
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Causes and Symptoms

Scleroderma is a connective tissue disease characterized by fibrosis and hardening of the skin and internal organs. The word “scleroderma” is derived from the Greek sclero, meaning “hard,” and derma, meaning “skin.” Women are four times more affected than men. The disease generally affects persons between the ages of thirty and fifty.

It is believed that scleroderma is autoimmune in origin. The exact cause of the disease is yet to be discovered, but an overproduction of collagen has been observed in skin biopsies of patients with scleroderma. Two types of the disease have been recognized: localized scleroderma and systemic sclerosis. The localized form of the disease is more common in children and can affect small areas of the skin or muscle or can be widespread, manifesting as morphea and/or linear scleroderma. Morphea affects the skin, with gradually enlarging inflammatory plaques or patches; they may regress spontaneously over time and typically last for months to years. The skin over the lesions appears firm to hard, and the lesions themselves are ivory or yellow in color. Linear scleroderma usually affects a limb or the forehead and, if present early in childhood, can result in permanent limb shortening. This type may also affect the muscles and joints, causing limited joint mobility.

Systemic sclerosis, on the other hand, is a more widespread disease that affects multiple organs, such as the skin, esophagus, gastrointestinal tract, muscles, joints, blood vessels, heart, kidneys, lungs, and other internal organs. This disease usually manifests in adults, with symptoms of at least one or more of the following: Raynaud’s phenomenon (extreme sensitivity of the extremities to cold temperatures, with a tingling sensation and the limb turning blue, red, or white upon exposure to cold); thickening of the skin with a leathery, shiny appearance (sclerodactyly); fibrosis and thickening of the joints with decreased mobility; swelling of the hands and feet, with pain and stiffness of the joints; and orofacial abnormalities from thickening of the skin. Some patients may experience symptoms of esophageal, heart, lung, or kidney disease. Systemic sclerosis should always be suspected in every case of difficulty swallowing and heartburn, especially if seen in a middle-aged woman. Patients may complain of nonspecific problems, such as bloating of the abdomen, weight loss, fatigue, generalized weakness, diarrhea, constipation, shortness of breath, and vague aching of joints and muscles. They may also exhibit dryness and redness of the conjunctiva and mucous membranes (Sjögren’s syndrome or keratoconjunctivitis sicca).

Some patients experience the CREST syndrome, which is an acronym for calcinosis, Raynaud’s phenomenon, esophageal dysmotility, sclerodactyly, and vascular telangiectasia. Another form of the disease is localized cutaneous systemic sclerosis, which affects mainly the skin of the hands, face, feet, and forearms, with Raynaud’s phenomenon being the primary symptom.

Diagnosis of the disease is difficult, especially in the initial stages, as the symptoms are common to a variety of immunologically mediated diseases such as rheumatoid arthritis, Sjögren’s syndrome, and systemic lupus erythematosus (SLE). The diagnosis is mainly based on clinical findings, an elevated erythrocyte sedimentation rate (ESR), and a skin biopsy showing elevated collagen levels. Sometimes, a positive antinuclear antibody test and a positive rheumatoid factor test may be seen. About 30 percent of patients are positive for the Scl-70 antibody, which is highly specific for the disease. X-rays and lung function tests are used to determine the extent of the disease.

Those with the systemic form are prone to various complications, including heart failure, kidney failure, respiratory problems, and intestinal malabsorption.

Treatment and Therapy

As of the beginning of the twenty-first century, no cure for scleroderma had been found. Each symptom, however, can be treated effectively, and the quality of life can be greatly improved if the disease is detected early in its course. The disease is primarily managed by rheumatologists and dermatologists, owing to the severity of its course and the difficulty of diagnosis. Calcium-channel blockers are used to decrease the symptoms caused by Raynaud’s phenomenon, joint pain and stiffness can be treated with nonsteroidal anti-inflammatory drugs (NSAIDs), esophageal dysmotility and subsequent heartburn is treated with antacids and antireflux measures, lung inflammation and fibrosis can be treated with cyclophosphamide, and heart failure and renal failure are treated appropriately with drugs. Penicillamine and corticosteroids are used to treat the fibrosis seen in the disease. In addition, physical and occupational therapy is instituted to improve joint mobility.

Morphea or localized scleroderma can be managed by the application of cortisone ointment to the lesions. This will not reverse or treat the disease completely, but it appears to slow the progression and provide symptomatic relief. Patients are also advised to use sunscreen lotions and moisturizers to soften the skin and prevent sunburn. Plastic surgery may be employed to correct serious deformities.

Perspective and Prospects

Scleroderma is an individual disease, with each patient exhibiting different aspects. This makes diagnosis even more difficult and complicated. Scleroderma is not contagious, and it is not believed to be heritable. It is thought that certain people are inherently more susceptible to the disease, and they develop it only if environmental or physical trigger factors, such as stress, are activated. Prognosis of the localized form of scleroderma is good, with the lesions resolving spontaneously, and the five-year survival rate for those with systemic disease is 80 to 85 percent. Many clinical trials are being conducted for such treatments as the use of stem cells as a “rebooting” mechanism, alpha interferon, ultraviolet therapy, and even psychotherapy. These approaches appear promising and aim to at least improve the quality of life of patients with scleroderma, if not cure the disease.

Bibliography

Alan, Rick, and Rosalyn Carson-DeWitt. "Scleroderma." Health Library, Sept. 1, 2011.

Brown, Michael. Scleroderma: A New Role for Patients and Families. Los Angeles: Scleroderma Press, 2002.

Fauci, Anthony S., et al, eds. Harrison’s Principles of Internal Medicine. 18th ed. New York: McGraw-Hill, 2012.

Frazier, Margeret Schell, and Jeanette Wist Drzymkowski. Essentials of Human Diseases and Conditions. 5th ed. St. Louis, Mo.: Saunders/Elsevier, 2013.

Mayes, Maureen D. The Scleroderma Book: A Guide for Patients and Families. Rev. ed. New York: Oxford University Press, 2005.

Rakel, Robert E., ed. Textbook of Family Practice. 8th ed. Philadelphia: W. B. Saunders, 2011.

"Scleroderma." MedlinePlus, May 13, 2013.

Tapley, Donald F., et al, eds. The Columbia University College of Physicians and Surgeons Complete Home Medical Guide. Rev. 3d ed. New York: Crown, 1995.

"What Is Scleroderma?" National Institute of Arthritis and Musculoskeletal and Skin Diseases, Aug. 2010.

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