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

Lungs	Fibrosis, pulmonary hypertension
Heart	Myocardial fibrosis → arrhythmias
Kidneys	Acute or chronic kidney injury, hypertension, acute renal hypertensive crises
Gut	Reflux, 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

• No cure
• Symptomatic treatment
  • Raynaud’s: hand warmers, Ca²⁺ antagonists, IV prostacyclins, phosphodiesterase-5 inhibitors
  • GI: proton pump inhibitor
• Prevention of complications
  • Lung fibrosis: immunosuppressants (e.g. cyclophosphamide, mycophenolate)
  • Pulmonary hypertension: prostaglandins, endothelin antagonists, phosphodiesterase-5 inhibitors, supplemental oxygen
  • Renal crises: low dose ACE inhibitor

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