Systemic sclerosis (Scleroderma)

Systemic sclerosis is a systemic autoimmune condition. It is characterised by excessive collagen leading to fibrosis of the skin and may also affect other organs.

Types

• Limited cutaneous systemic sclerosis: cutaneous sclerosis limited to below elbows
• Diffuse cutaneous systemic sclerosis: cutaneous sclerosis extends above elbows – more likely to get organ involvement

Clinical features

Symptoms

• Skin
  • Thick, tight, itchy skin
  • Usually affects the face, hands and feet but can progress to affect the whole body
• CREST features
  • Calcinosis 
  • Raynaud’s
  • Esophageal dysfunction (heartburn)
  • Sclerodactyly (thickening and tightness of skin of fingers/toes)
  • Telangiectasia 

Signs

• Hands
  • Look: sclerodactyly, tight waxy skin, ulceration, blanching, finger-pulp atrophy
  • Feel: subcutaneous calcinosis, cool hands
  • Move: prayer sign lost (fixed flexion deformity of fingers)
• Face
  • Mask-like face
  • Skin tethering
  • Telangiectasia
  • Microstomia
  • Beaked nose

Raynaud’s phenomenon

Telangiectasia

Fibrotic organ involvement

Investigations

• Auto-antibodies
  • Antinuclear (commonly positive but non-specific)
  • Limited: anti-Centromere (CREST)
  • Diffuse: anti-topoisomerase (anti-Scl-70)
• Assess extent of organ involvement (e.g. CXR/high-resolution CT, echocardiogram, ECG, U&Es, urinalysis, barium swallow)
• Hand X-rays (calcinosis)

Management

• Immunosuppression options: methotrexate, mycophenolate mofetil, cyclophosphamide
• Autologous stem cell transplantation in select cases
• Prevention/management of organ-based disease
  • Raynaud’s: hand warmers, Ca²⁺ antagonists (nifedipine), IV prostacyclins (iloprost), phosphodiesterase-5 inhibitors
  • Skin disease: immunosuppression
  • GI: proton pump inhibitor, upright posture after meals, laxitives
  • Lung fibrosis: immunosuppression, oxygen therapy
  • Pulmonary hypertension: prostaglandins, endothelin antagonists, phosphodiesterase-5 inhibitors, oxygen therapy
  • Renal crises: low dose ACE inhibitor
  • Heart failure: immunosuppression, pacemaker, implantable cardioverter defibrillator, ACE inhibitor, carvedilol, diuretics

Test yourself

What is colour sequence of Raynaud’s phenomenon?

Hands change colour in cold: White→Blue→Red
Remember as White Before Red!

What is the pathophysiology in Scleroderma renal crisis?

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