Scleroderma is an autoimmune condition that affects connective tissues, which joins and supports other tissues and organs in the body.¹ ‘Scleroderma’ comes from the Greek words ‘skleros’ (hard) and ‘derma’ (skin), as this condition is often characterised by the hardening or thickening of skin, and in some cases, internal organs as well.^1,2 This is caused by a reaction of the body’s immune system resulting in too much production of collagen, an important protein of the connective tissue. This overproduction of collagen can lead to scarring and damage to the skin and internal organs, such as the lungs, heart, kidneys, oesophagus and digestive system (gastrointestinal tract).¹

Scleroderma can affect both men and women but is more common in women.^1,2 It can occur at any age, particularly between 40-60 years, but is less likely in children. Scleroderma is not contagious or infectious.¹ It is also not cancerous or malignant, but it can be life-threatening, particularly if it affects the internal organs such as the lungs, heart, and kidney.

There are two main forms of scleroderma:¹

• Systemic scleroderma, which affects the skin and internal organs
• Localised scleroderma, which affects the skin and, in some cases, the tissues or muscles beneath the skin but not internal organs

There are no known synonyms for Scleroderma.

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:801 Scleroderma

ICD-11: EE7Y Other specified disorders of cutaneous connective tissue

Symptoms may depend on the form of scleroderma.

For information about symptoms specific to each form of scleroderma, please refer to the Systemic Scleroderma page and Localised Scleroderma page on the RARE Portal.

Please also speak to your medical team to learn more about the symptoms and complications of a specific type of scleroderma.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

Scleroderma is an autoimmune condition that causes the body to overproduce collagen. It is generally classified as one of the autoimmune rheumatic diseases.¹ The exact cause of the autoimmune reaction is unknown.

Diagnosis of scleroderma may be made based on clinical examination of symptoms/disease presentation, medical history and findings from laboratory tests and studies. It is important to not just confirm the diagnosis of scleroderma, but to determine the extent and severity of the disease, particularly whether there is involvement of internal organs.¹

Please visit the Systemic Scleroderma page and Localised Scleroderma page for more information about specific diagnostic tests for the different forms of scleroderma.

Please speak to your medical team to learn more about the available diagnostic pathways for a specific form of scleroderma.

There is currently no curative treatment for scleroderma. Treatment is targeted at managing symptoms (symptomatic management) and involves a multidisciplinary care team. This may include different types of medication to suppress the immune system and to treat specific symptoms.^1,3 Physiotherapy and exercise may help with joint mobility and muscles.¹

Monitoring and regular assessment for red flags and the involvement of internal organs is important, as early treatment is more effective.^1,3

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the treatment of scleroderma may include general practitioners (GP), rheumatologists, dermatologists, pulmonologists, cardiologists, nephrologists, gastroenterologists, wound care and continence nurses, social workers, occupational therapists, physiotherapists, psychologists, and dentists. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

The Australian Scleroderma Interest Group (ASIG) is a collaboration of rheumatologists who operate multidisciplinary scleroderma centres around Australia.

• ASIG: Centres lists the available scleroderma centres around Australia
• ASIG: Screening Centre Locator shows available scleroderma screening centres by map

We are not aware of any clinical care guidelines for scleroderma in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page.

The following guidance is available from international experts outside Australia; however, there may be information that is not relevant or applicable to the Australian context, and may not be up to date:

• BSR and BHPR guideline for the treatment of systemic sclerosis – developed by a representative group from the British Society of Rheumatology (BSR) and British Health Professionals in Rheumatology (BHPR); published in 2016

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

The following hospital care plan documents have been published by Scleroderma Australia, with information produced in collaboration with Scleroderma/Lupus Resource Centre at the Royal Newcastle Hospital, NSW:

• Scleroderma Australia: A guide to using the Hospital Checklist Care Plan
• Scleroderma Australia: Hospital Checklist – Care Plan for Person with Scleroderma

Information about research on scleroderma in Australia can be found at Scleroderma Australia: Australian research into Scleroderma.

The Australian Scleroderma Interest Group (ASIG) is a collaboration of rheumatologists, who in addition to operating multidisciplinary scleroderma centres around Australia, have designed the Australian Scleroderma Cohort Study (ASCS), aimed at creating a national database about people with scleroderma and mixed connective tissue disease (MCTD). They have also established a bio-bank to collect and store biological specimens from patients. More information about the ACSC and the bio-bank can be found at ASIG: ASCS Demographic & Biobank.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

Australian Organisation:

Scleroderma Australia
Website: https://www.sclerodermaaustralia.com.au/

Scleroderma Australia is the national representative voice in supporting the scleroderma community across Australia, with its governing committee made up of delegates from different states. There are different state organisations that provide support to people living with scleroderma in different states in Australia, including:

• Scleroderma Victoria
• Scleroderma Association of New South Wales
• Scleroderma Association of Queensland.

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Scleroderma vary between individuals, and each person’s experience is unique.

Personal stories shared with RVA: Claudia’s Story

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

Scleroderma Australia: Telehealth Pathways Nurse is a free of charge service to help individuals living with scleroderma to navigate Australia’s healthcare system.

Scleroderma Australia: Understanding Scleroderma and the NDIS provides information to help people with scleroderma apply for funding through the National Disability Insurance Scheme (NDIS) for support and services.

A number of informative brochures that explain aspects of scleroderma for medical professionals, people living with scleroderma, their families and friends can be found at Scleroderma Australia: Resources (Free brochures and information).

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on scleroderma can be found at:

• healthdirect: Scleroderma
• Arthritis Australia: Scleroderma
• National Organization for Rare Disorders (NORD): Scleroderma

• Scleroderma Australia: Resources – brochures with information relevant to medical professionals
• Australian Scleroderma Interest Group (ASIG): Scleroderma fact sheet
• Recognising skin manifestations of rheumatological disease (article in Australian Journal of General Practice)
• Red flags in scleroderma (article reprinted from Australian Family Physician)
• Orphanet: Scleroderma
• Orphanet: Systemic sclerosis
• Orphanet: Localized scleroderma
• Human Phenotype Ontology (HPO): Scleroderma (HP:0100324)

This page has been co-developed by Rare Voices Australia (RVA)’s RARE Portal team in consultation with Scleroderma Australia.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.