Condition
Scleroderma
Scleroderma is an autoimmune connective-tissue disease that causes hardening and tightening of the skin and can affect internal organs.
Overview
Aetiology
Scleroderma is a chronic autoimmune connective-tissue disease in which excessive collagen is deposited in the skin and other tissues, causing them to harden and tighten. It is driven by a combination of immune activation, small-vessel damage, and overproduction of collagen by fibroblasts. It occurs in a localized form affecting mainly the skin, and a systemic form (systemic sclerosis) that can also involve the blood vessels, digestive tract, lungs, heart, and kidneys.
Presentation
Symptoms
The most visible feature is thickened, tight, and shiny skin, often beginning on the fingers and face, frequently accompanied by Raynaud’s phenomenon. Systemic disease can cause difficulty swallowing, reflux, joint pain and stiffness, breathlessness from lung involvement, and high blood pressure from kidney involvement.
Assessment
Diagnostic Considerations
Diagnosis is clinical, supported by autoantibody testing (antinuclear antibodies, anti-Scl-70, and anti-centromere antibodies), nailfold capillary examination, and assessment of organ involvement through lung function tests, imaging, and kidney and heart evaluation.
Assessment
Differential Diagnosis
Other connective-tissue diseases such as systemic lupus erythematosus and mixed connective-tissue disease, as well as other causes of skin thickening, should be considered.
Context
Comorbidities
- Dysphagia
- GERD
- Malabsorption issues
- Impaired gas exchange in the lungs
- Aspiration pneumonia
- Pulmonary hypertension
- Heart failure
- Pericarditis
- Pleurisy
- Acute renal disease
- Hypertension
- Hemolytic anemia