Gayani R. Weerasinghe, MA and Brandel France de Bravo, MPH
What is scleroderma?
Scleroderma means hardening of the skin. It is not a single disease but a group of diseases. What all forms of the disease have in common is abnormal connective tissue leading to skin tightening. Connective tissue supports not only our skin, but also our internal organs. In severe cases, scleroderma can affect the lungs, gastrointestinal tract, kidneys and heart. There are two types of scleroderma: “localized scleroderma” and the more severe, “systemic scleroderma.”1 No one understands yet what causes either. 2
Localized scleroderma is limited to the skin and does not affect internal organs. Most of the time localized scleroderma will be reddish patches that are firm and oval-shaped, found on the chest, back or stomach. These “morphea,” or waxy patches, can also appear on the face, neck and legs1. The skin can sometimes harden in a line or in bands of lines that are a different color from the rest of the skin. Localized scleroderma does not worsen and turn into systematic scleroderma.1 While some damage from localized scleroderma can be permanent, these patches of hardened skin usually disappear with time. Only rarely can localized scleroderma be more serious and disabling.
“Systemic scleroderma” also known as Systemic Sclerosis (SSc) is a rare chronic autoimmune disease. It is often life-long. It is also called an inflammatory disease. An autoimmune disease is one in which a person’s immune cells (the ones that fight disease and infection) mistakenly attack healthy tissue, causing it to swell, and even block the cells that could help shrink the tissue and repair the damage.3 Systemic sclerosis is divided into “limited” and “diffuse” forms of the disease, depending on the extent of skin tightening and which parts of the body are affected.
Limited scleroderma usually begins slowly and affects only certain parts of the body, such as the fingers, hands, face, lower arms and legs.1 Some patients with the limited form of the disease experience severe lung problems and “Raynaud’s phenomenon.” In Raynaud’s, the hands and feet become pale and then turn blue due to small blood vessels constricting in response to cold weather or anxiety; repeated constricting like this can cause damage and tissue scarring.1
Diffuse scleroderma strikes more quickly and affects most of the body, sometimes damaging internal organs such as the intestines, lungs, heart and kidneys.1,2 Patients with diffuse scleroderma-the most severe and life-threatening form-often experience loss of energy, lack of appetite, weight loss, and painful or swollen joints. While diffuse scleroderma hits hard and relatively suddenly compared to limited scleroderma, it usually slows down 3 to 5 years after it starts and even stabilizes. For reasons that no one really understands, some patients have a longer “stable phase” than others. During this stable period-where the disease appears to have stopped in its tracks-damaged skin may partially recover and patients may regain their appetite. 1, 4 Only 30% of patients with diffuse scleroderma suffer damage to their lungs, heart, kidneys and digestive system, resulting in severe complications.1
While there is no cure, treatment of symptoms, life-style changes, and early intervention to protect organs can help prevent complications.2 Studies in which a group of people diagnosed with systemic scleroderma were followed over time have found that people with lung, heart, or renal (kidney) complications were more likely to die within ten years of being diagnosed than patients who did not have those complications.5 Among people with systemic scleroderma, those with the limited form of the disease live longer than those with diffuse disease.5 Early diagnosis and routine check-ups are very important for managing the disease and can help people with systemic scleroderma live longer and with less discomfort.6
How do you get scleroderma and who is at risk?
Autoimmune diseases such as systemic scleroderma cause a person’s own immune cells to attack normal cells and tissue as if they were outside bacteria or an infection. Like other autoimmune diseases (Lupus, Multiple Sclerosis) women who are 30-55 years of age are at a greater risk than men. Inflammatory diseases affect men and women equally and include diseases such as rheumatoid arthritis, where swelling of the joints and muscles causes pain, and asthma where inflamed lung tissue hinders breathing and lung function.
Since scleroderma affects women more than men, scientists suspect there may be an undiscovered hormonal link.7 While scleroderma affects all races, localized scleroderma is more common among white people of European descent, while systemic scleroderma is more likely to affect African Americans. 1
As with many other autoimmune diseases, we still do not understand what triggers scleroderma or why certain people develop one form of the disease and not another. What we know is that scleroderma can not be passed from one person to another like an infection, 8 and that genes do play a role. On the one hand, studies of identical twins indicate that scleroderma is not inherited: it does not pass from parent to child like sickle cell anemia or color blindness, both of which are found on a single gene with defective changes. On the other hand, someone with a sibling who has systematic scleroderma is much more likely to develop the disease (10-27 times more likely) than someone without a sibling with the disease.8 Scientists believe that the increased risk from having a sibling with scleroderma is partly due to genes, but also due to the way those genes respond to dangers or exposures in their environment.
Scientists are not sure but they suspect that environmental triggers of scleroderma might include long-term exposure to silica* and organic solvents (some examples are household cleaners, nail polish removers, dry cleaning fluids, and paint-thinners), bacterial/viral infections, drugs, pesticides, and silicone. 9
People with breast and lung cancer also seem to be more likely to develop systemic scleroderma. The relationship between scleroderma and cancer-why the two diseases might co-exist-is not clear.11
What are some of the symptoms of scleroderma?
The process of diagnosing scleroderma is complicated, and doctors must determine if the patient has localized scleroderma, which is non-life threatening, or systemic scleroderma.
Some of the symptoms of scleroderma are: 1
-change in skin color and texture
-calcium deposits under the skin (small white calcium lumps that can leak chalky white liquid)
-changes at the base of the finger nails due to tiny blood vessels
-waxy skin patches
-Raynaud’s phenomenon: change in skin color of fingers and other extremities due to anxiety or cold temperature.
Doctors will also be looking for other problems the patient may have (or had), such as heartburn or swallowing problems as these may indicate systemic scleroderma. The doctors can use laboratory tests to check for certain antibodies found in the blood of some individuals with systemic scleroderma. However, these tests are not conclusive since the presence or absence of these antibodies does not rule out scleroderma. The doctor may remove a bit of skin from one of the waxy patches for a biopsy. But not even a biopsy will be able to reveal which kind of scleroderma the patient has.1 Diagnosing scleroderma involves cataloguing all the patient’s symptoms, taking a complete medical history, and performing a physical examination.
Treatment of localized scleroderma
There is no one treatment for localized scleroderma. Doctors may try corticosteroids, other anti-inflammatory drugs, or UV-light treatment and vitamin D-based drugs.12 The effectiveness of these treatments varies from person to person. Sometimes a doctor may try a combination of drugs to reduce the symptoms and provide relief. Fortunately, in most cases localized scleroderma disappears on its own. And except for rare cases, it usually doesn’t do any permanent damage. Treatment of localized scleroderma focuses on improving the quality of life of the patient and helping heal skin that may have lesions due to the disease.
Systemic scleroderma symptoms and current treatments
People with scleroderma suffer from stiff and painful joints. This is caused by tight skin and inflamed joints. For pain relief, a doctor will usually prescribe a nonsteroidal anti-inflammatory (NSAID) drug such as Aleve or ibuprofen. 3 Drugs that suppress the body’s immune response may also be given, since scleroderma is believed to be an autoimmune disease. 13 In addition to medication, people with systemic scleroderma follow a regimen designed by a physical therapist and/or doctor to help the patient maintain a regular schedule of exercises, stretches, and physical activity to preserve muscle strength, flexibility and joint mobility. Many people with scleroderma benefit from seeing a professional therapist who can help them make adjustments to the way they live and work so as to better cope with any disability caused by the disease.1
For people whose skin has been damaged from scleroderma, it is recommended that they apply oil-based creams regularly and sunscreen when they go outside to avoid further damage from UV rays, and that they should avoid hot water baths/showers which can further dry the skin. It is also important that they avoid harsh soaps or chemicals that could irritate the skin1.
For relieving joint stiffness and regenerating the skin, regular exercise such as swimming is highly recommended. It stimulates blood circulation to the affected areas-helping to repair skin damage-and preserves muscle strength1.
Because scleroderma affects connective tissue, people can suffer from dry mouth and dental problems. Tight skin on the face and around the jaw can make it difficult to brush teeth properly, which can lead to tooth decay. This is why individuals with scleroderma sometimes need special dental treatment.1
Another common issue with systemic scleroderma is gastrointestinal (GI) problems ranging from heartburn, difficulty swallowing, loss of appetite, diarrhea, constipation and gas.1, 14 And since scleroderma can affect any part of the digestive system, damage can also interfere with a patient’s ability to absorb the nutrients in his or her food. An individual with GI issues should eat small but frequent meals, and avoid late-night meals and spicy or fatty food that can cause difficulties with digestion. The doctor may prescribe medications to alleviate digestive problems such as diarrhea, constipation, and heartburn.1
Most people with systemic scleroderma experience some damage to their lungs. This is treated with low doses of corticosteroids.4 If a person develops pulmonary hypertension (this is when the artery that carries blood from the heart to the lungs is constricted, resulting in high blood pressure), he or she may be given medications to dilate the blood vessels of the lungs. Since lung complications can lead to death, close supervision by doctors is necessary to prevent or lessen complications.
In addition, heart and kidney problems can present severe complications for scleroderma patients. Specific medications and sometimes even surgery are used to treat and prevent some of these possible complications.1
Is there good news for people with scleroderma?
For people with localized scleroderma, the good news is that their patches of tight skin are likely to disappear over time without medical intervention. Also, this form of the disease is not life-threatening and can not turn into the systemic scleroderma.
While systemic scleroderma can be life-threatening depending on complications to internal organs, early diagnosis, routine check-ups and treating and preventing damage to internal organs enable people to manage the disease. Currently, researchers are looking into the use of high-dose immune suppressing drugs and stem cell transplantation. These may hold the key to more effective management of the disease in the future.5,13 While there is no
cure for systemic scleroderma, doctors recommend getting regular exercise and quitting smoking. Exercise helps maintain joint mobility and muscle strength and stimulates blood circulation. Tobacco smoke is not only a skin irritant but given the relationship between scleroderma and lung cancer, smoking and exposure to tobacco smoke should be avoided.
1. Scleroderma In Handout on Health: The National Bone and Joint Decade 2002-2011, (U.S. Department of Health and Human Services, National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), 2002-2011), 40.
2. M. Hinchcliff and J. Varga, “Systemic sclerosis/scleroderma: a treatable multisystem disease,” Am Fam Physician, 78 (2008), 961-8.
3. Hummers L and Wigley F. Systemic Sclerosis, 2nd Edition In Scleroderma Treatment Options, John Hopkins University, (2004), (http://www.hopkinsscleroderma.org/patients/scleroderma-treatment-options/)
4. V.K. Bournia, P.G. Vlachoyiannopoulos, C. Selmi, H.M. Moutsopoulos and M.E. Gershwin, “Recent advances in the treatment of systemic sclerosis,” Clin Rev Allergy Immunol, 36 (2009), 176-200.
5. S.I. Nihtyanova, E.C. Tang, J.G. Coghlan, A.U. Wells, C.M. Black and C.P. Denton, “Improved survival in systemic sclerosis is associated with better ascertainment of internal organ disease: a retrospective cohort study,” Qjm, 103 109-15.
6. M. Matucci-Cerinic, V. Steen, P. Nash and E. Hachulla, “The complexity of managing systemic sclerosis: screening and diagnosis,” Rheumatology (Oxford), 48 Suppl 3 (2009), iii8-13.
7. J.E. Oliver and A.J. Silman, “Why are women predisposed to autoimmune rheumatic diseases?,” Arthritis Res Ther, 11 (2009), 252.
8. X. Zhou, F.K. Tan, M. Xiong, F.C. Arnett and C.A. Feghali-Bostwick, “Monozygotic twins clinically discordant for scleroderma show concordance for fibroblast gene expression profiles,” Arthritis Rheum, 52 (2005), 3305-14.
9. G.F. Mora, “Systemic sclerosis: environmental factors,” J Rheumatol, 36 (2009), 2383-96.
10. C.G. Parks, K. Conrad and G.S. Cooper, “Occupational exposure to crystalline silica and autoimmune disease,” Environ Health Perspect, 107 Suppl 5 (1999), 793-802.
11. B. Marasini, L. Conciato, L. Belloli and M. Massarotti, “Systemic sclerosis and cancer,” Int J Immunopathol Pharmacol, 22 (2009), 573-8.
12. I. Badea, M. Taylor, A. Rosenberg and M. Foldvari, “Pathogenesis and therapeutic approaches for improved topical treatment in localized scleroderma and systemic sclerosis,” Rheumatology (Oxford), 48 (2009), 213-21.
13. G. Zandman-Goddard, N. Tweezer-Zaks and Y. Shoenfeld, “New therapeutic strategies for systemic sclerosis–a critical analysis of the literature,” Clin Dev Immunol, 12 (2005), 165-73.
14. A. Forbes and I. Marie, “Gastrointestinal complications: the most frequent internal complications of systemic sclerosis,” Rheumatology (Oxford), 48 Suppl 3 (2009), iii36-9.
*Silica is naturally found in rocks, sand and soil. However when this chemical is disrupted due to construction/mining, it is released as silica dust that is dangerous and harmful to individuals. 10 Also, harmful silica particles can be found in cement, asbestos, jewelry, paint, ceramics, abrasives, soaps, cosmetics and many other materials. .10