Systemic Sclerosis (SSc)/Scleroderma/Progressive systemic sclerosis(PSS)
Spectrum of uncommon disorders characterised by microvascular abnormalities and accumulation of fibrous and collagen tissue in multiple organs. The rarity, subsets and clinical variants make this disease a clinical challenge. Key feature is thickening and fibrosis of skin. F>M. Usually start in 30-40’s. Prevalence of 10-20/100 000. Generally considered as being in two forms – generalised and localised, but other variants exist.
Typical presenting complaint is Raynauds phenomena (occurs in 90%) – may precede other features by years; in early stages have a puffiness of digits and feet; later get digital ischaemia and gangrene; tightening and thickening of skin (scleroderma); periungual telangiectasia; symptoms of internal organ involvement; flexion contracture of toes digital lesions
X-ray – resorption of fingertips (less commonly toes) – called acro-osetolysis; subcutaneous calcification; erosions of distal phalanges
Relapsing and intermittent joint symptoms are common – morning stiffness; joint line tenderness; mild synovial proliferation; erosive;
Two main clinical types (limited cutaneous and diffuse cutaneous), several variants are noted:
• CRST Syndrome:
calcinosis, Raynauds, sclerodactyly, telangiectasis
• Limited scleroderma/CREST Syndrome (about 60% of all cases):
calcinosis, Raynauds, oesophageal dysfunction, sclerodactyly, telangiectasis
has a very gradual onset
fibrotic skin is limited to hands, forearm, feet, neck and face
sclerosis of facial structures and fingers – associated with Raynaud’s syndrome
• Diffuse systemic sclerosis/scleroderma:
skin of trunk is involved – commonly get systemic features
onset is more abrupt than limited form
likely to have pulmonary, renal and/or cardiac involvement
high prevalence of antibodies to topoisomerase-1 (anti-Scl-70)
• Overlap syndromes
• associated wit other autoimmune diseases
• Dermatological variants:
Shulman Syndrome/Eosinophilic fasciitis:
• Scleroderma, eosinophilia and hypergammaglobulinaemia – no systemic or vascular involvement – Raynauds not often present in this type
• fascia is inflamed and thick
• Localised scleroderma
• dermal fibrosis limited in distribution with no internal organ involvement
• two forms
• 1) Linear scleroderma (bands of dermal fibrosis form on face, arms or legs – typically follow a linear path)
• 2) Morphea (single or multiple plaque like patches of fibrosis form on skin – usually trunk)
Involvement of the foot:
Aslanidis and Pyrpasopoulou reported painful plantar fasciitis rom the calcinosis associated with systemic sclerosis. Sari-Kouzel et al reported that of 50 patients with systemic sclerosis, 86% had colour changes in feet in response to temperature changes; 82% reported pain related to cold; 26% had a previous history of foot ulceration; 10% had current foot ulcer; 34% had preulcerative lesions; 62% had toe nail changes; 80% had callus; 18% had calcinosis; 42% had footwear fitting problems; 19% had been provided with therapeutic footwear.
This shows the importance of foot care in this group of patients.
Explanation and support – patient support groups helpful.
Directed at specific organ involvement (eg aggressive treatment of hypertension to prevent renal failure; pharmacological approach for oesophageal dysfunction)
No drugs alter course of disease – use of disease modifying drugs has mixed results
Immunosuppressive drugs can be used early. Antifibrotic drugs can be used later.