Systemic sclerosis (Scleroderma)

Systemic sclerosis is a systemic autoimmune condition resulting in excessive collagen deposition by fibroblasts.

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

Fibrotic organ involvement

LungsFibrosis, pulmonary hypertension
HeartMyocardial fibrosis → arrhythmias
KidneysAcute or chronic kidney injury, hypertension, acute renal hypertensive crises
GutReflux, dysphagia, faecal incontinence

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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