Overview
Definition
A rare autoimmune disease characterized by progressive fibrosis of the skin and internal organs.
Epidemiology
More common in women (peak onset 30-50 years).
Etiology & Risk Factors
- Autoimmune endothelial damage leading to excessive collagen deposition (fibrosis) by fibroblasts.
Clinical Symptoms
- Limited Cutaneous (CREST syndrome): Calcinosis cutis, Raynaud's phenomenon, Esophageal dysmotility, Sclerodactyly (tight skin on fingers), Telangiectasias
- Diffuse Cutaneous: Widespread skin fibrosis (chest, abdomen) and early, severe visceral organ involvement
- Raynaud's phenomenon (cold-induced vasospasm causing fingers to turn white, then blue, then red) is almost universal and often the first symptom.
Clinical Approach
Diagnosis
- Clinical findings
- Antibodies: Anti-Centromere antibodies (associated with Limited/CREST), Anti-Scl-70 (anti-topoisomerase I, associated with Diffuse/severe disease and pulmonary fibrosis)
Management
- Raynaud's: Calcium Channel Blockers (Nifedipine) to vasodilate
- Esophageal Reflux: PPIs
- Scleroderma Renal Crisis (life-threatening hypertension): ACE Inhibitors are life-saving
- Pulmonary Fibrosis / Interstitial Lung Disease: Immunosuppressants (Cyclophosphamide, Mycophenolate)
Complications
- Pulmonary Arterial Hypertension (leading cause of death in Limited disease)
- Interstitial Lung Disease (leading cause of death in Diffuse disease)
- Scleroderma Renal Crisis