History: The symptoms and signs of localized scleroderma are tightening and hardening of the skin, particularly on the arms, face, or hands, resulting in a loss of flexibility. These areas may also show changes in pigmentation. The individual may report swollen hands and feet (edema), particularly in the morning. Joint pain and stiffness may occur.
Symptoms and signs of systemic scleroderma include those of localized scleroderma. Most individuals complain of cold, numb fingers in response to cold environments, the symptom being caused by spasm of the blood vessels (Raynaud's phenomenon). Muscle and joint pains, fever, and muscle weakness are common. Individuals may report heartburn (gastroesophageal reflux), difficulty swallowing (dysphagia), regurgitation of food, and impaired speech (dysarthria). The individual with gastrointestinal involvement may report dry mouth, weight loss (anorexia), nausea, vomiting, bloating, diarrhea, and constipation. Individuals with advanced scleroderma may report a dry cough, chest pain, or shortness of breath.
Physical exam: Scleroderma can be difficult to diagnose because it is uncommon and may resemble other diseases at the beginning (e.g., lupus, rheumatoid arthritis). Skin changes are the hallmark of scleroderma. Thickened, hardened, shiny skin that has lost its normal texture and folds, changes in skin pigmentation, dilated blood vessels (telangiectasia) on the face and hands, and ulcers on the fingertips may be apparent. The joints of the fingers may become fixed and show decreased range of motion. Heart and lung problems may be detected. A grating sound (tendon friction rubs) may be heard or felt as inflamed tissues move over one another at the fingers, wrists, elbows, shoulders, knees, and ankles.
Tests: Blood tests for antibodies directed against parts of the cells in an individual’s body (antinuclear antibodies [ANA], anticentromere, and others) may show a pattern consistent with scleroderma. These tests are not helpful in monitoring disease activity. A sample of the affected skin may be removed (biopsy) for analysis. Examination of the junction between the fingernail and the skin under a microscope may reveal fewer small blood vessels (capillaries) than usual. Other diagnostic tests depend on affected organ systems. For instance, in systemic scleroderma, endoscopy may be performed for gastrointestinal involvement, electrocardiogram (ECG) or a 24-hour Holter monitor for heart concerns, and pulmonary function tests for lung involvement.