Scleroderma (Systemic Sclerosis)
An autoimmune condition that causes thickening and scarring (fibrosis) of the skin and sometimes internal organs, along with damage to small blood vessels. It nearly always starts with Raynaud’s. Early diagnosis and regular screening make a real difference.
Quick answer: Scleroderma (systemic sclerosis) is an autoimmune condition causing tight, thickened skin and damage to small blood vessels, sometimes affecting the gut, lungs, heart and kidneys. Raynaud’s is almost always the first sign. Diagnosis uses the 2013 ACR/EULAR criteria and antibody tests. There’s no cure, but treatment targets each affected organ, and yearly screening catches lung and heart problems early.
How common. Roughly 1 in 4,000 to 1 in 6,000 people; Australia has one of the higher recorded rates. About 4 in 5 are women, usually diagnosed between 30 and 50.
Types. Limited cutaneous systemic sclerosis affects skin of the hands, forearms, feet and face, develops slowly, and was once called CREST syndrome. Diffuse cutaneous systemic sclerosis spreads to the upper arms, thighs and trunk, often quickly in the first few years, with a higher chance of organ involvement. Localised scleroderma (morphoea) is a different condition affecting only patches of skin, not internal organs.
Causes. Unknown. A mix of genes and environmental triggers leads to immune activation, blood vessel damage and excess collagen. Silica dust exposure is a recognised risk. It isn’t contagious and usually doesn’t run strongly in families.
Symptoms. Raynaud’s in over 95 in 100 people, often years before anything else. Puffy fingers, then tight, shiny, thickened skin; fingertip ulcers and pitting scars; small red spots (telangiectasia); calcium lumps under the skin. Reflux, swallowing trouble, bloating and bowel changes. Joint pain and stiffness. Breathlessness or a dry cough from lung scarring (interstitial lung disease, ILD) or high pressure in the lung arteries (pulmonary arterial hypertension, PAH).
How it’s diagnosed. By a rheumatologist using the 2013 ACR/EULAR classification criteria: skin thickening of the fingers of both hands extending above the knuckles is enough on its own; otherwise points are added for puffy fingers, fingertip ulcers or scars, telangiectasia, abnormal nailfold capillaries, Raynaud’s, lung involvement and specific antibodies. ANA is positive in over 9 in 10, and the antibody type (anti-centromere, anti-Scl-70 or anti-RNA polymerase III) predicts which organs are at risk. Everyone needs a baseline and then regular lung function tests and heart ultrasound (echo), often yearly, plus blood pressure and kidney checks.
Treatment
Treatment targets the organs involved, following the EULAR 2023 recommendations.
- Everyone · Self-careWarmth, skin care and hand exercisesKeep the whole body warm, moisturise, protect fingertips, do hand and mouth stretches, don’t smoke.
- Works
- Reduces Raynaud’s attacks and keeps hands working
- Access
- Low cost; physio and OT help
- Watch for
- Report any fingertip sore early.
- Raynaud’s and ulcers · PrescriptionNifedipine, then sildenafil, iloprost or bosentanCalcium channel blockers first; sildenafil or iloprost infusions for severe Raynaud’s or ulcers; bosentan to prevent new ulcers.
- Works
- Fewer and less severe Raynaud’s attacks; faster ulcer healing and fewer new ulcers
- Access
- Nifedipine PBS; others mostly specialist
- Watch for
- Headache, flushing, ankle swelling.
- Gut · PrescriptionProton pump inhibitors and gut medicinesPPIs for reflux, medicines to help gut movement, and antibiotics for bacterial overgrowth.
- Works
- Control reflux and protect the oesophagus
- Access
- PBS-subsidised
- Watch for
- See our reflux guide for self-care tips.
- Skin and lungs · SpecialistMethotrexate, mycophenolate, nintedanib, tocilizumab or rituximabMethotrexate or mycophenolate for skin; mycophenolate first for lung scarring, with nintedanib, tocilizumab or rituximab as options.
- Works
- In the SENSCIS trial, nintedanib slowed lung function decline by about 41 mL a year (52 vs 93 mL); it didn’t improve skin
- Access
- Specialist only
- Watch for
- Diarrhoea is common with nintedanib; blood monitoring for all.
- Severe early diffuse · SpecialistStem cell transplantFor selected people with rapidly progressing diffuse disease.
- Works
- Improves long-term survival in selected patients, but with real treatment risks
- Access
- Specialist centres only
- Watch for
- Significant risks; careful selection.
Living with it
- Keep every screening appointment, even if you feel well; lung and heart problems start silently.
- Check your blood pressure regularly at home if your doctor advises, especially with diffuse disease.
- Avoid high-dose steroids unless your rheumatologist advises them; they can trigger kidney crisis.
- Eat smaller meals, stay upright after eating and raise the head of the bed for reflux.
- See a dentist regularly; a smaller mouth opening makes dental care harder.
See your GP if
- Raynaud’s starts after age 30, or with puffy fingers, finger sores or tight skin
- Skin on your fingers or face is becoming tight or shiny
- You have scleroderma and notice new breathlessness, a dry cough, or swallowing trouble
- You have reflux or swallowing trouble with Raynaud’s
Get urgent help for a severe headache, blurred vision or very high blood pressure, passing little urine, chest pain or severe breathlessness, or a finger that turns black or stays white and painful: call 000 (Australia) or your local emergency number. A sudden rise in blood pressure can signal scleroderma renal crisis, which needs urgent treatment with an ACE inhibitor.
Outlook. Varies widely. Many people with limited disease live for decades with mostly hand and gut symptoms. Diffuse disease is more serious in the first 3 to 5 years, when skin and organs change fastest. Lung and heart involvement are the main risks, which is why screening matters. World Scleroderma Day is on 29 June: see our health days calendar. In Australia, Rare Voices Australia supports people living with rare diseases.
Common questions
What are the first signs of scleroderma?
Usually Raynaud’s (fingers turning white then blue in the cold), then puffy fingers, and later tight, shiny skin on the fingers and face. Reflux is also common early.
What is the difference between scleroderma and systemic sclerosis?
Scleroderma means ’hard skin’ and covers both localised scleroderma (skin patches only) and systemic sclerosis, which can affect internal organs.
Is scleroderma fatal?
It can be when it affects the lungs, heart or kidneys, but many people live for decades, especially with limited disease. Regular screening and early treatment improve outcomes.
What is CREST syndrome?
An older name for limited cutaneous systemic sclerosis: calcinosis, Raynaud’s, oesophageal problems, sclerodactyly (tight finger skin) and telangiectasia.
Can scleroderma go into remission?
Skin thickening in diffuse disease often softens after the first few years. There’s no cure, but organ problems can be stabilised with treatment.
What blood tests show scleroderma?
ANA is positive in over 9 in 10 people. Anti-centromere, anti-Scl-70 (topoisomerase) and anti-RNA polymerase III antibodies help confirm it and predict organ risks.
Is scleroderma hereditary?
Not usually. Relatives have a slightly higher risk of autoimmune conditions, but most people with scleroderma have no affected family members.
Evidence and more information
- van den Hoogen et al, 2013 ACR/EULAR classification criteria for systemic sclerosis
- Del Galdo et al, EULAR recommendations for the treatment of systemic sclerosis: 2023 update
- Distler et al, NEJM 2019: Nintedanib for systemic sclerosis-associated interstitial lung disease (SENSCIS)
- NHS: Scleroderma
maladywise.com/scleroderma/