What are the symptoms of scleroderma?

Symptoms of Scleroderma (Systemic Sclerosis)

Scleroderma presents with a characteristic constellation of vascular, skin, and internal organ manifestations, with Raynaud phenomenon and skin thickening being the hallmark features that nearly all patients experience. 1, 2

Core Vascular Manifestations

• Raynaud phenomenon occurs in nearly all patients (>95%) and is often the earliest presenting symptom 1, 2
• Digital ulcers affect approximately 50% of patients and represent significant vascular compromise 1, 2

Skin Manifestations

• Skin thickening (scleroderma) is the defining feature, with hardening and tightening of the skin that can be measured using the modified Rodnan skin score (0-51 scale) 1, 2
• Puffy fingers may occur early in the disease course, particularly in prescleroderma presentations 1
• In diffuse cutaneous SSc, skin thickening typically progresses over the first 4 years before potentially regressing 1
• The extent of skin involvement determines disease classification: limited disease affects areas distal to elbows/knees, while diffuse disease extends proximally to trunk 1, 2

Pulmonary Symptoms

• Nonproductive cough of varying severity is a frequent symptom, particularly in patients with interstitial lung disease (ILD) or aspiration from esophageal involvement 3
• Dyspnea develops as pulmonary complications progress 3
• Respiratory involvement occurs in up to 85% of patients, with ILD affecting 40-75% based on lung function changes 3, 1
• Patients with scleroderma-associated ILD demonstrate increased sensitivity of the cough reflex compared to those without ILD 3

Gastrointestinal Symptoms

• Gastrointestinal involvement affects nearly 90% of patients, with the esophagus being most commonly affected 1, 2
• Gastroesophageal reflux disease is common due to esophageal dysmotility 4
• Small bowel, colon, and anorectal involvement can occur sequentially 1
• Malnutrition is the leading cause of mortality attributed to GI tract involvement 1
• Aspiration can occur due to esophageal dysfunction 3

Musculoskeletal Symptoms

• Inflammatory arthritis occurs in approximately 15% of patients 1
• Myositis or myopathy affects about 15% of patients 1
• Tendon friction rubs may be present and indicate more aggressive disease 1

Renal Manifestations

• Scleroderma renal crisis (SRC) occurs predominantly in early diffuse cutaneous SSc, particularly in patients with anti-RNA polymerase III antibodies 1
• Risk factors include male sex, tendon friction rubs, rapidly progressive skin involvement, and glucocorticoid use 1

Cardiac Symptoms

• Arrhythmias and heart failure may develop with cardiac involvement 1
• Cardiomyopathy can occur as a disease manifestation 3

Additional Systemic Symptoms

• Sicca symptoms (dry eyes and mouth) can occur, particularly when overlapping with Sjögren syndrome 3
• Calcinosis (calcium deposits in tissues) may develop 3
• Pulmonary arterial hypertension risk increases with longer disease duration, older age, and low diffusing capacity 1

Important Clinical Pearls

The absence of Raynaud phenomenon, specific capillaroscopic abnormalities, or scleroderma-specific autoantibodies should prompt consideration of scleroderma mimics rather than true systemic sclerosis 5. The typical patient is a young or middle-aged woman with a history of Raynaud phenomenon who presents with skin induration and internal organ dysfunction 4. Approximately 80% of patients are female, with half presenting before age 40 6.