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The importance of recognizing scleroderma-type disorders in clinical practice

Nature Clinical Practice Rheumatology volume 4, pages 638–640 (2008)Cite this article

Scleroderma is a rare disease, yet its initial symptoms are frequently encountered in general rheumatology practice as features of the more-common rheumatic diseases and of several 'scleroderma-like' diseases. Scleroderma-like disorders often show substantial clinical overlap with scleroderma, but the diagnostic evaluation and subsequent management plan can be completely different. Misdiagnosis or a delay in diagnosis is common, and can impede access to potentially effective therapy. Several key clinical features early in presentation help distinguish these diseases, and can prompt expedient screening for internal organ complications and facilitate treatment and appropriate referral to a specialty center (Table 1). This Viewpoint will focus on strategies for recognizing and distinguishing these disorders.

Table 1 Distinguishing clinical features of scleroderma-like disorders.
Full size table

Two unique and fairly stereotypical presentations distinguish the two major subtypes of scleroderma. Early diffuse cutaneous scleroderma, the first of these subtypes, almost always presents with coincident or near-coincident symptoms of Raynaud phenomenon and swelling and stiffness of the patient's hands and feet. This presentation can be confused with that of early rheumatoid arthritis, carpal tunnel syndrome, or other connective tissue diseases; the symptoms can sometimes also be attributed to syndromes that cause peripheral edema. Patients with diffuse scleroderma feel systemically ill, and might also have elevated levels of inflammatory markers, perceived 'joint' pain with morning stiffness and pruritus of the affected areas. Symptoms of scleroderma that might be present in this early stage include finger ulcerations, prominent gastroesophageal reflux and dyspnea (attributable to underlying cardiopulmonary disease). Examination of a patient in the very early stages of scleroderma sometimes reveals dramatic non-pitting edema of the distal extremities without sclerosis of the tissues or synovitis. Tendon friction rubs, which are unique to scleroderma, might be palpable, most often over the wrists and ankles. Physical examination should include inspection of nailfold capillaries, which will typically show mild dilation early in the disease course. Recognition of this phenotype of scleroderma should prompt rapid evaluation of pulmonary function, possibly including high-resolution CT of the chest, and frequent home assessment of blood pressure, as patients with this phenotype are at high risk for progressive fibrotic lung disease and renal crisis.1 Most scleroderma experts believe that intervention with immunosuppressive therapy can slow disease progression when instituted in the early inflammatory stages of the disease.2

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  1. LK Hummers is Assistant Professor of Medicine and Co-Director of the Johns Hopkins Scleroderma Center at Johns Hopkins University, Baltimore, MD, USA.,

    Laura K Hummers

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Correspondence to Laura K Hummers.

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Hummers, L. The importance of recognizing scleroderma-type disorders in clinical practice. Nat Rev Rheumatol 4, 638–640 (2008). https://doi.org/10.1038/ncprheum0937

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