sdfsdfScleroderma is an uncommon autoimmune disorder marked by the stiffening and toughening of the skin and connective tissues.1 The word scleroderma itself is derived from the Greek words skleros, meaning “hard” and derma, meaning “skin.” The disease is caused by an overproduction of collagen, which results in the scarring of tissues and organs.
Scleroderma can affect various parts of the body, including the:
- Blood vessels
- Internal organs (lungs, heart, and kidneys)
The severity and course of scleroderma can vary widely, from mild and limited to severe and life-threatening.
In practice, scleroderma is often synonymous with systemic sclerosis. However, scleroderma is a spectrum, from localised scleroderma (morphoea) manifesting in patches of hard skin, to isolated Raynaud’s phenomenon where skin thickening and vascular damage emerge. Systemic sclerosis, often seen as a combination of the two mentioned, also fits in the spectrum where thickening and fibrosis of the skin, fibrosis of internal organs, as well as vascular abnormalities, manifest.
Causes of scleroderma
The precise origin of scleroderma remains unclear, yet it's thought to result from a mix of genetic and environmental influences. Researchers have identified several genetic and immune-related factors that contribute to the development of the disease, such as abnormal immune responses, cytokine dysregulation, and abnormalities in T and B cell function.
Environmental factors such as exposure to toxins, infections, and stress have also been linked to the development of scleroderma.
Signs and symptoms of scleroderma
The symptoms of scleroderma can vary depending on the type of disease and the extent of organ involvement. The two main types of scleroderma are localised and systemic. Localised scleroderma affects only the skin and muscles, while systemic sclerosis affects multiple organs and tissues.
This is characterised by the presence of one or more patches of thick, hardened skin, often on the hands, face, or trunk. The skin may appear shiny and taut and may be discoloured or have small blood vessels visible beneath the surface. The patches may be painful or itchy and may limit the movement of the affected area.
Systemic sclerosis is further classified into two subtypes: limited cutaneous scleroderma and diffuse cutaneous scleroderma. Limited cutaneous scleroderma affects only the skin of the face, hands, and feet, while diffuse cutaneous scleroderma affects the skin of the arms, legs, and trunk.
The symptoms of systemic sclerosis can include:
- Raynaud's phenomenon (a condition causing fingers and toes to feel cold and numb when exposed to cold temperatures or stress)
- Joint pain and stiffness
- Muscle weakness
- Shortness of breath
- Dry eyes and mouth
- Difficulty swallowing
- Gastrointestinal problems (acid reflux, bloating, and diarrhoea)
If left untreated in severe cases, systemic scleroderma can lead to poor blood supply, causing:
- Digital ulcers
- Lung fibrosis
- Cardiac complications
- Musculoskeletal function decline
- Kidney malfunction
Management and treatment for scleroderma
There is no cure for scleroderma, but there are various treatments available to manage the symptoms and slow the progression of the disease.2 Treatment for scleroderma depends on the type and severity of the disease, as well as the organs affected.
Localised scleroderma may not require treatment, but topical corticosteroids, calcipotriene, or phototherapy may be used to help reduce skin inflammation and promote healing.
Systemic scleroderma is typically treated with medications to control symptoms and prevent further damage to the organs. Medications such as immunosuppressants, corticosteroids, and calcium channel blockers may be used to reduce inflammation and control immune system activity. Other medications such as proton pump inhibitors, prokinetic agents, and antibiotics, may be used to treat gastrointestinal symptoms.
Beyond medication, individuals with scleroderma might find physical therapy, occupational therapy, and counselling advantageous for symptom management and preserving life quality. Exercise and rehabilitation efforts enhance joint movement and muscle fortitude, whereas counselling and support circles assist in handling the emotional and psychological impacts of the condition.
In severe cases of systemic scleroderma, organ-specific treatments may be necessary. For example, pulmonary hypertension is a complication of systemic scleroderma that affects the lungs; it may require the use of pulmonary vasodilators to improve blood flow and oxygenation.3
Lung fibrosis, another common complication of scleroderma, may be treated with immunosuppressive therapy or medications that target the scarring process in the lungs. In some cases, lung transplantation may be necessary. As for the renal crisis that may also emerge, angiotensin-converting enzyme inhibitor (ACEi) has been proven to have a major therapeutic impact.4 Angiotensin II receptor blockade and renin inhibitor may also be useful but are less effective compared to ACEi.5
Besides medical interventions, individuals with scleroderma can enhance their overall well-being and lessen potential complications by adopting healthier lifestyles. This includes giving up smoking, embracing a nutritious diet, engaging in consistent physical activity, and limiting sun exposure, all of which can alleviate symptoms and decrease complication risks.
How is scleroderma diagnosed?
Scleroderma is diagnosed through a combination of physical examination, medical history, blood tests, and imaging studies. Doctors may perform skin biopsies to confirm the diagnosis and rule out other conditions. Pulmonary function tests, echocardiograms, and other tests may be done to check for organ involvement. In recent years, research has been done on the standardisation of the modified Rodnan skin score (MRSS), a skin thickness assessment used as an outcome measure in systemic sclerosis clinical trials.6
How can I prevent scleroderma?
Unfortunately, there are no known ways to prevent scleroderma. It is a rare and complex autoimmune disorder that arises from a combination of genetic, environmental, and immune system factors. However, leading a healthy lifestyle with a balanced diet, exercise, and stress management may help reduce the risk of developing complications associated with scleroderma.
Who is at risk of scleroderma?
Scleroderma can affect people of any age, gender, or ethnicity, but it is more common in those assigned female at birth and individuals of African or Native American descent. It tends to develop between the ages of 30 and 50 and may have a genetic component, meaning that having a family member with scleroderma may increase one's risk of developing the disease.2
How common is scleroderma?
Scleroderma is considered a rare, chronic disease. 2.5 million people worldwide have been reported to be living with scleroderma, with 19,000 within the UK alone.7
When should I see a doctor?
If you experience any unusual symptoms, such as swelling, skin thickening, joint pain, or shortness of breath, you should seek medical attention promptly. Early diagnosis and treatment are crucial in managing scleroderma and preventing further complications. Additionally, if you have a family member with scleroderma or other autoimmune disorders, it may be advisable to discuss your risk factors with a doctor.
Scleroderma is a rare autoimmune disease that affects the connective tissues of the body, causing them to thicken and harden. It can affect different parts of the body, including the skin, blood vessels, and internal organs, and can have a significant impact on a person's quality of life. There are several different types of scleroderma, each with its own set of symptoms and complications. While the exact cause of scleroderma is unknown, research suggests that a combination of genetic and environmental factors may play a role. While there is currently no cure for scleroderma, survival is improving and treatments are becoming more available to manage symptoms and slow disease progression. Medications, physical therapy, and lifestyle changes can all help to improve symptoms and maintain the quality of life for patients with scleroderma. Early diagnosis and treatment can help to prevent complications and improve outcomes for patients with this rare and complex disease.
- Denton CP, Khanna D. Systemic sclerosis. The Lancet [Internet]. 2017 Oct [cited 2023 Oct 11];390(10103):1685–99. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0140673617309339
- Silver RM, Denton CP, editors. Case studies in systemic sclerosis [Internet]. London: Springer London; 2011 [cited 2023 Oct 11]. Available from: https://link.springer.com/10.1007/978-0-85729-641-2
- Mackintosh JA, Stainer A, Barnett JL, Renzoni EA. Systemic sclerosis associated interstitial lung disease: a comprehensive overview. Semin Respir Crit Care Med [Internet]. 2019 Apr [cited 2023 Oct 11];40(02):208–26. Available from: http://www.thieme-connect.de/DOI/DOI?10.1055/s-0039-1683431
- Balbir-Gurman A, Braun-Moscovici Y. Scleroderma – New aspects in pathogenesis and treatment. Best Practice & Research Clinical Rheumatology [Internet]. 2012 Feb [cited 2023 Oct 11];26(1):13–24. Available from: https://linkinghub.elsevier.com/retrieve/pii/S1521694212000125
- Walker UA, Tyndall A, Czirjak L, Denton C, Farge-Bancel D, Kowal-Bielecka O, et al. Clinical risk assessment of organ manifestations in systemic sclerosis: a report from the EULAR Scleroderma Trials And Research group database. Annals of the Rheumatic Diseases [Internet]. 2007 Jan 12 [cited 2023 Oct 11];66(6):754–63. Available from: https://ard.bmj.com/lookup/doi/10.1136/ard.2006.062901
- Khanna D, Furst DE, Clements PJ, Allanore Y, Baron M, Czirjak L, et al. Standardization of the modified rodnan skin score for use in clinical trials of systemic sclerosis. Journal of Scleroderma and Related Disorders [Internet]. 2017 Jan [cited 2023 Oct 11];2(1):11–8. Available from: http://journals.sagepub.com/doi/10.5301/jsrd.5000231