Scleroderma — Clinical Case (Wikimedia Commons)

Diagnosis: Scleroderma

Targa in onore di Carlo Curzio, il medico che descrisse per primo la sclerodermia(1753).. Clinical photograph sourced from Wikimedia Commons (CC BY 3.0). Attribution: Vichingpedia.

Clinical Presentation

Early: Raynaud phenomenon, puffy fingers, skin tightening. Limited: skin involvement distal to elbows/knees + face (formerly CREST syndrome). Diffuse: rapid onset, proximal skin involvement, higher risk of organ fibrosis (lungs, heart, kidneys).

Clinical History

Female predominance (4:1). Peak onset 30-50 years. Raynaud phenomenon often precedes skin changes by years. Screen for: pulmonary hypertension, ILD, renal crisis, GI dysmotility. Autoantibodies: anti-centromere (limited), anti-Scl-70 (diffuse), anti-RNA pol III (renal crisis risk).

Treatment

Raynaud: calcium channel blockers, PDE5 inhibitors. ILD: mycophenolate, nintedanib, tocilizumab. Pulmonary HTN: endothelin antagonists, PDE5 inhibitors, prostacyclins. Renal crisis: ACE inhibitors (not ARBs). Skin: methotrexate, mycophenolate.

Differential Diagnosis

Morphea, Eosinophilic fasciitis, Nephrogenic systemic fibrosis, Scleredema, Scleromyxedema, GVHD

Key Learnings

Scleroderma renal crisis is a medical emergency — ACE inhibitors are life-saving. Do NOT use high-dose corticosteroids in diffuse SSc — triggers renal crisis. Anti-RNA polymerase III antibodies are associated with both renal crisis and cancer risk.

Tags: scleroderma, systemic sclerosis, autoimmune, fibrosis, connective tissue