What are the common examination signs in patients with scleroderma?

Examination Signs in Scleroderma Patients

Scleroderma patients present with characteristic skin thickening, Raynaud phenomenon in >95% of cases, and specific vascular changes on nailfold capillaroscopy that are essential for diagnosis and classification. 1

Skin Findings

• Skin thickening is the hallmark examination finding, measured using the modified Rodnan skin score (mRSS) which assesses 17 anatomical sites on a 0-3 scale (total range 0-51). 1
• In diffuse cutaneous disease (dcSSc), skin involvement extends proximal to elbows/knees and includes the trunk, whereas limited cutaneous disease (lcSSc) affects only distal extremities, face, and neck. 1, 2
• Skin thickening in dcSSc typically progresses over the first 4 years and may partially regress thereafter. 1
• The distribution pattern of skin involvement is critical for disease classification and prognostic assessment. 2

Vascular Manifestations

• Raynaud phenomenon is present in nearly all patients (>95%) and is often the earliest clinical manifestation. 1
• Digital ulcers occur in approximately 50% of patients and represent severe vascular compromise. 1
• Nailfold capillaroscopy reveals characteristic microvascular changes including capillary loss, dilated loops, and hemorrhages that are pathognomonic for scleroderma spectrum disorders. 2
• Hand involvement commonly includes calcium deposits within soft tissues, digital ischemia, and joint contractures. 3

Musculoskeletal Findings

• Tendon friction rubs are a specific examination finding that indicates more aggressive disease and increased risk for scleroderma renal crisis. 1
• Inflammatory arthritis is present in approximately 15% of patients. 1
• Joint contractures develop due to skin tightening and fibrosis, particularly affecting the hands. 3
• Myositis or myopathy affects about 15% of patients, and those with skeletal myopathy are 2.5 times more likely to have heart failure or arrhythmias. 4

Gastrointestinal Signs

• Gastrointestinal involvement affects nearly 90% of patients, though many findings require functional testing rather than physical examination alone. 1
• The esophagus is most commonly involved, followed by small bowel, colon, and anorectum. 1
• Malnutrition may be evident on examination and represents the leading cause of mortality from GI involvement. 1

Pulmonary Examination

• Bibasilar crackles may indicate interstitial lung disease, which occurs in 40-75% of patients based on lung function changes. 1
• Signs of pulmonary hypertension (elevated JVP, loud P2, right ventricular heave) should be sought, particularly in patients with longer disease duration and low diffusing capacity. 1

Cardiac Findings

• Arrhythmias and signs of heart failure should be actively assessed, though cardiac involvement may be clinically silent early in disease. 1
• Pericardial effusions can manifest with muffled heart sounds or pericardial rub. 4

Important Clinical Caveats

• The absence of Raynaud phenomenon, abnormal nailfold capillaroscopy, or scleroderma-specific autoantibodies should prompt consideration of scleroderma mimics such as scleromyxedema, scleredema, nephrogenic systemic fibrosis, or eosinophilic fasciitis. 5
• Some patients (1.5-8%) present with "SSc sine scleroderma" lacking definite skin involvement but developing major internal organ complications. 1
• Rapidly progressive skin thickening with weight loss, especially in elderly patients, warrants malignancy screening. 1
• Patients with poorly vascularized tissue and deficient soft-tissue envelopes have increased susceptibility to wound healing complications. 3