Scleroderma – also called systemic sclerosis (SSc) – is a chronic autoimmune connective tissue disease characterised by overproduction of collagen, leading to fibrosis (hardening and thickening) of the skin and, in many cases, internal organs. The word "scleroderma" means hard skin, but the condition extends well beyond skin involvement.
There are two main subtypes:
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- Limited cutaneous systemic sclerosis (lcSSc), which primarily affects the skin of the hands, face, and lower arms and legs; and
- Diffuse cutaneous systemic sclerosis (dcSSc), which involves more widespread skin thickening and carries a higher risk of early internal organ involvement.
Raynaud's phenomenon – colour changes in the fingers in response to cold or stress – is one of the most common early feature of both subtypes.
How common is Scleroderma?
Scleroderma is a rare condition. It is estimated to affect approximately 5,000–7,000 Australians. Women are affected three to four times more often than men, and the condition is most commonly diagnosed between the ages of 30 and 60. It occurs across all ethnicities, though some genetic variations affecting risk differ between populations.
Symptoms vary considerably depending on which organs are involved and the subtype of scleroderma.
Common symptoms include:
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- Raynaud's phenomenon – fingers (and sometimes toes or ears) turning white, then blue, then red in response to cold or stress; often the earliest symptom
- Thickening, hardening, or tightening of the skin, typically beginning in the fingers and hands
- Swollen, puffy fingers in early disease (before skin thickening develops)
- Joint pain and stiffness
- Fatigue
- Heartburn, reflux, and difficulty swallowing (from oesophageal involvement)
- Shortness of breath (from interstitial lung disease or pulmonary hypertension)
- Digital ulcers – painful sores on the fingertips caused by poor circulation
Internal organ involvement – particularly the lungs (interstitial lung disease and pulmonary arterial hypertension), kidneys, heart, and gastrointestinal tract – is a major source of morbidity in scleroderma and requires regular monitoring.
The exact cause is not fully understood.
Scleroderma results from a combination of immune system activation, abnormal collagen production, and vascular injury:
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- Immune system dysfunction – autoantibodies (including anti-Scl-70 and anti-centromere antibodies) are present in most people with scleroderma and contribute to inflammation and fibrosis
- Genetics – scleroderma is not strongly hereditary, but certain genetic variants increase susceptibility
- Environmental triggers – silica dust, certain solvents, and other environmental exposures have been associated with increased risk in some populations
Scleroderma is diagnosed by a rheumatologist based on clinical features and investigations:
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- Physical examination – assessment of skin thickening, Raynaud's phenomenon, and signs of organ involvement
- Blood tests – including antinuclear antibody (ANA) and specific autoantibodies (anti-Scl-70/anti-topoisomerase I, anti-centromere, anti-RNA polymerase III) which help identify the subtype and predict organ involvement
- Nailfold capillaroscopy – microscopic examination of the blood vessels at the base of the fingernails; characteristic changes are seen in scleroderma
- Lung function tests and high-resolution CT (HRCT) chest – to assess for interstitial lung disease
- Echocardiogram – to screen for pulmonary arterial hypertension
Early diagnosis and regular surveillance for organ complications are essential.
There is no cure for scleroderma. Treatment targets specific complications and manifestations rather than the disease as a whole.
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- Raynaud's phenomenon and digital ulcers — Vasodilators including calcium channel blockers, sildenafil (Revatio), and iloprost are used to improve circulation and prevent and heal digital ulcers. Bosentan (Tracleer) is used to reduce the frequency of new digital ulcers.
- Interstitial lung disease (ILD) — Mycophenolate mofetil (CellCept) and cyclophosphamide are used to stabilise lung function. Nintedanib (Ofev) is used to slow the progression of SSc-associated ILD.
- Pulmonary arterial hypertension — Managed with the same targeted therapies as PAH from other causes – see the PAH resource page.
- Skin and inflammatory manifestations — Methotrexate is used for inflammatory skin disease and joint involvement. Rituximab and tocilizumab are used in some cases of refractory disease.
- Gastrointestinal involvement — Proton pump inhibitors for reflux; prokinetics for motility issues; nutritional support in severe cases.
The following specialty medications are available at Ace, a specialty pharmacy for Scleroderma.
With Ace, you’ll benefit from:
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- Expert Support — Our dedicated team of health concierges is always available to answer your questions, provide guidance, and help you navigate your condition with confidence.
- Specialty Medication — We offer a wide range of specialty medications and support services, designed specifically for those living with chronic illnesses. Whether you’re looking for help managing a specific condition, or simply need access to the medications you need, we’ve got you covered.
- A Wide Range of Conditions — From diabetes to heart disease, and everything in between, we help manage a variety of special condition
Take control of your health and well-being, and start your journey to better health with Ace today.
Scleroderma-Specific Support
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- Scleroderma Association of Australasia (SCALA) – peer support, information, and advocacy for Australians with scleroderma
- Arthritis Australia – Scleroderma
- Musculoskeletal Health Australia – Scleroderma
Clinical Resources
