Scleroderma (Systemic sclerosis)

Condition

• Scleroderma 

Definition

• Chronic systemic autoimmune disease characterised by hardening of the skin 
• 3 clinical variants
• limited cutaneous disease, for example, morphea
• cutaneous with limited organ involvement (CREST: calcinosis, raynaud phenomenon, oesophageal dysmotility, sclerodactyly, telangiectasia + anticentromere antibody)
• diffuse systemic disease (systemic sclerosis)

Main features

• Female to male ratio 3:1
• A progressive disease of multiple organs
• Raynaud phenomenon 
• Stiffness of fingers and other skin areas
• Bird like faces (mouth puckered)
• Dysphagia and diarrhoea 
• Respiratory symptoms 
• Cardiac symptoms such as pericarditis
• Look for tight skin on chest (Roman breastplate)

Murtagh diagnostic triad

• Finger discomfort + arthralgia + GORD +/- skin tightness = scleroderma

Investigations

• ESR may be raised
• Normocytic normochromic anaemia may be present t
• ANA test up to 90% positive
• Rheumatoid factor +ve in 30%
• Anticentromere antibodies - specific (positive in 90% with limited disease and 5% with diffuse)
• Antitopoisomerase (anti-Scl-70) antibody is specific but positive in 20% - 40% 
• Skin biopsy - increase in derma collagen 

Treatment

• Analgesics for pain 
• Avoid vasospasm (no smoking, beta blockers, ergotamine); calcium channel blockers such as nifedipine may help Raynaud
• Treat malabsorption if present, skin emollients
• D-penicillamine can help if there is significant systemic or cutaneous involvement 

References

1. John Murtagh's general practice 5th edition