Progressive Systemic Sclerosis, Localized Scleroderma, Systemic Scleroderma
What is Scleroderma?
Scleroderma is a disorder in which there is hardening and thickening of the skin. Two forms of the disease have been described. When the disease involves the skin and the tissue beneath the skin, it is called localized scleroderma. When the disease involves internal organs along with hardening of the skin, it is called systemic scleroderma. Localized scleroderma is more common than systemic scleroderma.
The usual course of localized scleroderma involves a period of about two years during which the skin and underlying tissues harden and stiffen. After that time, the skin symptoms rarely become worse and may even lessen. In rare instances, the hands may become permanently crippled. Localized scleroderma can be characterized by different forms: include morphea and linear scleroderma.
When systemic scleroderma occurs, organ involvement may produce hypertension, lung problems, kidney failure, and intestinal tract problems that can lead to malnutrition. Because this disease has a large variation of symptoms and signs in each individual, physicians classify systemic scleroderma into types that include diffuse scleroderma, CREST syndrome, unclassified or transitional form, and overlap syndromes. The causes of scleroderma are unknown. Most people with scleroderma contract it between the ages of 20 and 40 years. Women are about four times as likely to contract the disease as men are.
How is it diagnosed?
History: The symptoms and signs of localized scleroderma are thickening and tightening of the skin, particularly on the arms, face or hands, resulting in a loss of flexibility. These areas also show changes in coloration (pigmentation) of the skin. Puffy hands and feet may also be present, particularly in the morning. Joint pain and stiffness may occur.
The symptoms and signs of systemic scleroderma include those of localized scleroderma. In addition, however, more serious life-threatening effects occur.
Ninety percent of individuals with the disease experience abnormally cold and numb fingers in response to cold environments, caused by an abnormal degree of spasm of the blood vessels (Raynaud's phenomenon). Joint pain, fever, general discomfort and swelling are common. With time, the thickened skin loses normal folds. In addition to changes in skin pigmentation, spots resembling birthmarks (telangiectasia) appear.
Ulcers develop on the fingertips. As the disease progresses, dysfunction of the esophagus (canal leading from the throat to the stomach) cause heartburn, difficulty swallowing, regurgitation of food, and impaired speech (dysphagia). The intestinal tract loses some of its ability to absorb nutrients from food, so that weight loss occurs.
In advanced disease, the lungs begin to lose function, causing shortness of breath. Heart abnormalities (pericarditis, heart block, myocardial fibrosis, and right heart failure secondary to pulmonary hypertension) develop.
The final stage of disease occurs when the kidneys become involved and a severe form of high blood pressure (malignant hypertension) develops, which is the main cause of death.
Physical exam: Depending on the stage and form of the disease, any or all of the above findings may be observed. Usually, the typical skin changes allow for a provisional diagnosis.
Tests: The use of diagnostic testing is dependent on the stage and form of the disease. Certain blood tests (ANA studies, RA factor, HLA antigens) and removal of a sample of the affected skin for study (biopsy) are often used.
How is Scleroderma treated?
No cure exists for scleroderma. Treatment depends on the severity of the disease and aims to preserve normal body functions and minimize complications.
- Disease-modifying antirheumatic drugs
- Corticosteroids are sometimes used for skin sclerosis.
- Individuals also may benefit from medications to control hypertension and avoid kidney damage.
- Antibiotics are often prescribed to control the overgrowth of intestinal flora.
- Other gastrointestinal problems are treated with antacids.
Physical therapy is usually important to help maintain flexibility and muscle strength.
- Be as active as your strength permits; avoid fatigue.
- Regular exercise (or movement) can help keep the skin flexible, maintain good blood circulation, and prevent fixed joints.
Eat frequent, small meals to minimize bloating, heartburn and gastrointestinal discomfort. A soft diet is sometimes recommended. Use additional fluids to help with swallowing. A dietitian can help plan a nutritious diet.
What might complicate it?
Injury to sclerotic hands can result in infection, which may lead to death of the tissue (gangrene). Smoking and exposure to cold temperatures can trigger attacks of Raynaud's phenomenon.
In most individuals with localized scleroderma, the disease is self-limited. Hand debilitation can occur in differing degrees. Systemic scleroderma usually progresses over a period of many years. There may be periods when the disease process seems to be unchanging. Occasionally, the symptoms may lessen (remission), either in certain localized areas or throughout the body. When the disease involves certain internal organs, it becomes life threatening. Approximately 30% of people with systemic scleroderma die within five years of onset.
Other disorders that have common presenting features are eosinophilic fasciitis and eosinophilia myalgia syndrome.
Rheumatologist, immunologist, dermatologist, and physical medicine and rehabilitation specialist.
Last updated 22 November 2021