musculoskeletal and connective tissue disorders
Systemic Sclerosis
Symptoms and Signs of Systemic Sclerosis
The most common initial symptoms and signs of systemic sclerosis are Raynaud Syndrome and insidious swelling of the distal extremities with gradual thickening of the skin of the fingers. Polyarthralgia is also prominent. Gastrointestinal disturbances (eg, heartburn, dysphagia) or respiratory complaints (eg, dyspnea) are occasionally the first manifestations. Swelling of the skin is usually symmetric and progresses to induration. It may be confined to the fingers (sclerodactyly) and hands, or it may affect most or all of the body. The skin eventually becomes taut, shiny, and hypopigmented or hyperpigmented; the face becomes masklike; and telangiectases may appear on the fingers, chest, face, lips, and tongue. However, in some patients, skin can soften to variable degrees. Subcutaneous calcifications may develop, usually on the fingertips (pulps) and over bony eminences. Digital ulcers are common, especially on the fingertips, overlying the finger joints, or over calcinotic nodules. Abnormal capillary and microvascular loops in the nails can be seen with an ophthalmoscope or dissecting microscope. This image shows late-stage shiny and thickened skin with effacement of normal markings secondary to tautness, called sclerodactyly. By permission of the publisher. From Pandya A:Gastroenterology and Hepatology: Stomach and Duodenum. Edited by M Feldman. Philadelphia, Current Medicine, 1996. In this image, bound-down taut skin throughout the chest also extends over the shoulders bilaterally, leading to a loss of range of movement of the shoulders. By permission of the publisher. From Marder W, Lath V, Crofford L, Lowe L, McCune WJ:Atlas of Rheumatology. Edited by G Hunder. Philadelphia, Current Medicine, 2005. In this photo, hardening and tightening of the skin has caused toes to curl in on themselves. DR P. MARAZZI/SCIENCE PHOTO LIBRARY Polyarthralgias or mild arthritis can be prominent. Flexion contractures may develop in the fingers, wrists, and elbows. Friction rubs may develop over the joints, tendon sheaths, and large bursae. Esophageal dysfunction is the most frequent visceral disturbance and occurs in most patients. Dysphagia (usually retrosternal) usually develops first. Acid reflux can cause heartburn and stricture. Barrett esophagus occurs in one third of patients and predisposes to complications (eg, adenocarcinoma). Hypomotility of the small bowel causes bacterial overgrowth that can lead to Lung involvement generally progresses indolently, with substantial individual variability, but is a common cause of death. Lung fibrosis and Overview of Interstitial Lung Disease are common and can impair gas exchange, leading to exertional dyspnea and restrictive disease with eventual respiratory failure. Acute alveolitis (potentially responsive to therapy) can develop. Esophageal dysfunction can lead to aspiration pneumonia. Severe, often sudden onset renal disease (scleroderma renal crisis) may occur, most commonly in the first 4 to 5 years in patients who usually have diffuse scleroderma and the RNA polymerase III antibody. It is often heralded by sudden, severe hypertension with features of thrombotic microangiopathic hemolytic anemia. It can also occur without acute hypertension or in systemic sclerosis sine scleroderma, and therefore clinical suspicion is required to make the diagnosis. Corticosteroid use is a risk factor for development of scleroderma renal crisis. 