What are the clinical features of scleroderma?

From the Guidelines

Scleroderma presents with a range of clinical features affecting multiple organ systems, including skin thickening and hardening, Raynaud's phenomenon, gastrointestinal involvement, pulmonary complications, cardiac involvement, renal crisis, musculoskeletal symptoms, fatigue, weight loss, and digital ulcers, as reported in the most recent study 1. The clinical features of scleroderma can be divided into several categories, including:

• Skin involvement: skin thickening and hardening, which typically begins in the fingers and hands before potentially spreading to other body areas 1
• Vascular involvement: Raynaud's phenomenon, characterized by color changes in fingers and toes when exposed to cold or stress 1
• Gastrointestinal involvement: difficulty swallowing, acid reflux, bloating, and altered bowel habits 1
• Pulmonary complications: interstitial lung disease and pulmonary hypertension, which may cause shortness of breath and decreased exercise tolerance 1
• Cardiac involvement: arrhythmias, pericarditis, and heart failure 1
• Renal crisis: sudden hypertension and kidney dysfunction, though less common with modern treatments 1
• Musculoskeletal symptoms: joint pain, contractures, and muscle weakness 1
• Other symptoms: fatigue, weight loss, and digital ulcers 1 The disease varies greatly in severity and progression, with limited cutaneous scleroderma (affecting distal extremities) generally having a better prognosis than diffuse cutaneous scleroderma (more widespread skin involvement) 1. Early recognition of these features is crucial for prompt intervention to manage symptoms and prevent complications, as recommended in the latest guidelines 1. Screening for organ involvement is also essential, including screening for pulmonary arterial hypertension, interstitial lung disease, scleroderma renal crisis, and other organ involvement, as outlined in the latest review 1.

From the Research

Clinical Features of Scleroderma

The clinical features of scleroderma are diverse and can affect various organs and systems in the body. Some of the key features include:

• Skin thickening and fibrosis, which can be limited to the distal extremities, face, and neck, or can be more widespread, affecting the proximal extremities and trunk 2
• Vascular manifestations, such as fingertip ulcers, pulmonary arterial hypertension, and acute renal crisis 3
• Organ fibrosis, which can affect the lungs, gastrointestinal tract, kidneys, and heart 3, 4
• Immunologic abnormalities, including the presence of characteristic autoantibodies such as ANA, anticentromere, and anti-Scl-70 antibodies 2, 4
• Musculoskeletal involvement, including myositis and arthritis 4

Forms of Scleroderma

Scleroderma can present in different forms, including:

• Limited disease, also known as CREST syndrome, which is characterized by skin fibrosis in the distal extremities and some areas of the face and neck 2
• Diffuse disease, which includes patients with skin abnormalities extending to the proximal extremities and trunk 2
• Localized disease, which manifests as patches (morphea) or bandlike (linear scleroderma) areas of skin thickening 2
• Acroscleroderma, with limited cutaneous and extracutaneous involvement, and diffuse scleroderma with a more rapid progression 4

Diagnostic and Therapeutic Challenges

Scleroderma poses significant diagnostic and therapeutic challenges due to its clinical heterogeneity and high rate of morbidity and mortality 3. Early diagnosis and treatment are essential to improve outcomes, and may include vasoactive therapy, anti-inflammatory treatment, and other interventions to manage symptoms and slow disease progression 4.