WHAT IS SCLERODERMA?
The name scleroderma is derived from the Greek word skleros, which means hard, and derma, which means skin. The most characteristic feature of scleroderma is the build-up of tough scar-like fibrous tissue in the skin. The disease may affect the skin alone (localized scleroderma) or be a systemic disease that involves internal organs.
The disease is classified as localized scleroderma, limited scleroderma and diffuse scleroderma. Localized scleroderma affects the skin and does not involve internal organs; other names for this condition include morphea and linear scleroderma. Systemic sclerosis is sometimes used to refer to the limited and diffuse forms of the disease.
The degree of skin involvement separates limited from diffuse scleroderma. People with limited scleroderma have skin thickening of their limbs but skin on their trunk and above the elbows and knees is spared. Those with diffuse disease have skin involvement of their proximal arms and legs and their trunk.
HOW COMMON IS SCLERODERMA?
Scleroderma is a relatively rare disease. It affects women three to five times more frequently than men. Its incidence occurs increasingly with age but its onset is most commonly between the ages of 30 and 50. However, localized scleroderma is more common in children.
WHAT ARE THE WARNING SIGNS OF SCLERODERMA?
The symptoms of scleroderma generally differ depending on the type of scleroderma: localized, limited or diffuse.
The course of localized scleroderma is very slow and it rarely becomes more widespread or causes severe complications. Localized scleroderma takes on two forms:
Morphea (pronounced mor-fee-ah) scleroderma is the form where hard round or oval patches develop on the skin. These patches tend to be white with a reddish area around them. They may occur on your chest, stomach, face, arms, legs or other parts of your body.
With the linear form of localized scleroderma, a line of thickened skin may occur in areas such as your face (often the forehead), arms or legs. This line of hard skin extends deep down into the skin, bones and muscles, and may alter growth of the affected part. This form usually occurs in young people who develop scleroderma.
With the form of scleroderma called limited scleroderma, your skin hardening may be widespread, but not everywhere on your body, and it will not appear on your trunk. Often with this form the lungs, heart and kidneys are not involved, but heartburn from involvement of the esophagus (your swallowing tube) is a common symptom. Limited scleroderma used to be known as CREST syndrome, but most doctors don't use this term anymore as only rare patients have all of the features it represents. CREST stands calcinosis (pronounced cal-si-no-sis), Raynaud's phenomenon (pronounced ray-nodes feh-naw-meh-non), esophageal (pronounced i-sof-ah-jee-ul) dysfunction, sclerodactyly (pronounced scler-o-dac-tul-lee), and telangiectasia (pronounced tell-an-jee-ek-stas-ee-ah). One or more of these conditions can also occur in other forms of scleroderma.
Calcinosis is the name given to the condition where small white chalky lumps made up of calcium form under the skin. These lumps often form around the fingers but can occur anywhere in the body. They can rupture through the skin and cause a chalky white material to ooze out. Eating too much calcium does not cause these lumps.
Raynaud's phenomenon is caused by a spasm or narrowing of the blood vessels in your limbs. Exposure to the cold or emotional stress can trigger such spasms. The resulting reduction in blood flow causes your fingers and toes to become blue or white in colour. If the condition is severe you may also have pain and numbness in the affected areas. Smoking aggravates this condition. Raynaud's phenomenon occurs with many other medical problems apart from scleroderma.
Esophageal dysfunction results when scleroderma affects the esophagus (pronounced i-sof-a-gus).Food is carried from your mouth down your esophagus to your stomach.In your esophagus a rhythmic muscle action moves the food along. With scleroderma your esophagus can become less mobile and the muscle action can diminish. Over time, the muscle may be replaced by scar tissue. This can result in difficulty swallowing. You might also get heartburn more often as the acid from the stomach is able to flood upwards into the esophagus where it can cause burning. Some people also experience a feeling of bloating when eating and a desire to vomit after eating.
The word sclerodactyly means 'hardness of the digits.' With this condition the skin of your fingers may become dry, coarse-textured or feel 'woody.' Hair may vanish from your hands, the creases on them may disappear, and they may look shiny. You may also have difficulty moving your fingers and they may tighten into a bent position.
Telangiectasia is a condition where small red spots appear on the surface of the skin. These are due to enlarged (damaged) blood vessels. They commonly occur on the fingers, palms, face, lips and tongue.
A sixth, but less common symptom is also associated with limited scleroderma. You could develop bowel dysfunction, which leads to an inability to absorb nutrients from food, an overgrowth of bacteria in your bowel, weight loss and diarrhea or constipation. Bowel dysfunction occurs when the muscles of your intestine weaken and are replaced by scar tissue, as can happen with your esophagus.
If you have diffuse scleroderma , the other form of systemic scleroderis, you will probably experience widespread thickening of the skin on your arms, legs, face, chest and stomach. These skin changes can occur quite rapidly, though progress of this form of the disease varies widely from person to person. In addition to the skin changes, other areas are frequently involved: lungs, kidneys, heart, blood vessels, bowel, esophagus, joints, and connective tissues such as tendons and ligaments. Diffuse scleroderma can become very severe -- even life threatening. It may overlap with other autoimmune diseases, including lupus (pronounced loo-pus) and polymyositis (pronounced pol-ee-my-o-site-iss). If this occurs the disorder is then referred to as mixed connective tissue disease.
Heart and lung problems may result from diffuse scleroderma. Problems with your heart could include a slowing of your heart rate or changes in its rhythmic pattern. High blood pressure on the right side of the heart can occur (called pulmonary artery hypertension); this can be difficult to detect early so you're your doctor will want you to have annual ultrasounds of your heart. If your lungs are involved, they will lose their ability to function efficiently. Symptoms of heart or lung involvement may include shortness of breath, coughing, chest pain and irregular beating of the heart.
If your kidneys are affected by scleroderma blood flow to them may be restricted. This can produce high blood pressure and kidney failure and is a serious problem requiring urgent treatment. Symptoms could include severe headache, shortness of breath, vision problems, chest pain and mental confusion.
The glands and organs that produce fluid can also be affected. Dry eyes, mouth or vagina may indicate that you have a condition called Sjögren's (pronounced show-grens) syndrome, which may accompany scleroderma. Your eyes may become dry if the glands that produce tears, the lacrimal glands, fail. The salivary glands in your mouth can also fail. In a woman with diffuse scleroderma the cells that normally keep her vagina moist may fail and the area can become abnormally dry.
The joints are not usually the primary area of involvement in scleroderma, but inflammation of the joints can occur as part of the disease. The skin, when involved with thickening and tightness, also lead to stiffness and reduced motion of the joints in the affected areas.
WHAT CAUSES SCLERODERMA?
It appears that scleroderma begins with being born with the genetic potential to develop the disease. Something then triggers the immune system, which normally protects the body from germs, viruses, and bacteria to generate antibodies that attack healthy tissue in different parts of the body. This response produces inflammation and an overproduction of collagen - the tough fibrous protein that helps construct connective tissues, such as tendons, bones, and ligaments as well as scar tissue. This excess collagen is deposited in the skin and body organs. What triggers this process is unknown. Scleroderma may be associated with exposure to, and high build-up in the body of, certain chemicals or heavy metals.
WHAT CAN YOU DO ABOUT SCLERODERMA?
At this time there is no cure for scleroderma. Therefore treatment is designed to control the symptoms. Establishing the correct diagnosis is important because something can be done to manage most forms of arthritis and most therapies work best when started early in the disease.
Diagnosis may be difficult as there is no specific test that confirms scleroderma is present. Your doctor will probably perform a physical examination and order other tests such as x-rays and blood tests.
If skin changes are already present the diagnosis may be simple and routine. In other cases where scleroderma is suspected, your doctor may wish to do a skin biopsy, which involves removing a small piece of skin to be analyzed in a laboratory. Your doctor may feel your skin, checking for thickened and hardened areas, and may also press tendons and joints to detect crackling or grating sensations, which can indicate changes beneath the skin. A major clue to diagnosing scleroderma is the symmetrical (happening in the same spot on both sides of the body) hardening and thickening of the skin in areas on the fingers and toes. By looking at your fingernails underneath a microscope, your doctor may also be able to detect changes in your blood vessels that are characteristic of scleroderma and mixed connective tissue disease.
There are a wide variety of other tests possible, which may be done based on the organs that are involved. For example, if you're having difficulty swallowing your doctor may order a special X-ray of the esophagus.
If you are diagnosed as having scleroderma, the goal of your treatment plan will be to bring the symptoms and disease under control. Treatment plans are based on the type and severity of symptoms, and are individualized to meet each person's needs. Your active involvement in developing your prescribed treatment plan is essential.
NSAIDs reduce pain when taken at a low dose, and relieve inflammation when taken at a higher dose.
DMARDs target the processes causing the inflammation, but do not reverse permanent damage. The most common of them used in scleroderma are, methotrexate,, hydroxychloroquinine, azathioprine and cyclophosphamide. Your doctor will select the best drug for you depending on how the disease is affecting you most. If your joints are swollen and sore, they will usually use methotrexate and/or hydroxychloroquine. If your lungs are affected, cyclophosphamide may be selected. These drugs usually take a few months to make a difference in the inflammation. Potential side effects may include, diarrhea and nausea. More serious side effects, are rare and are monitored through regular blood tests to make sure the bone marrow and liver are not affected.
A variety of other agents may be used depending upon the particular organs involved. Medications that control small blood vessel spasms are used in individuals with marked Raynaud's phenomenon. In cases where kidney involvement has lead to high blood pressure, certain medications need to be used to deal with this potentially serious problem. Medications are available to reduce acid production in the stomach and control heartburn. Other drugs may improve bowel problems.
You may find general information in Arthritis Medications: A Consumer's Guide [PDF] even if your disease is not specifically addressed.
Body and Skin Care
If you have scleroderma you should do things to care for your skin. Using a humidifier in your house during winter months will help prevent the air, and your skin from becoming too dry. Topical creams can be used to prevent your skin from drying out. Light mineral oil, petroleum jelly, and cocoa butter are moisturizers that work well. It may also be necessary for you to limit the frequency of bathing to preserve your natural skin oils.
Try to protect areas of skin calcification from pressure and abrasion. In these hardened areas the skin can more easily break down and get infected. Keep areas of skin that may have opened very clean. Aggressive treatment of infections, should they occur, is important.
Another goal of skin protection is to maintain good circulation. By wearing gloves and warm socks in cold weather, your skin is protected from cold air, which reduces the risk of the blood vessels shrinking (vasospasm). If reaching into the freezer for food triggers Raynaud's phenomenon try wearing gloves or oven mitts during this activity. If you have the symptoms of Raynaud's phenomenon and smoke, stop smoking. Smoking triggers vasospasms in your whole body and will worsen the symptoms.
By carefully and adequately chewing your food you can minimize your difficulty swallowing. Drinking fluids with food will assist if the mouth is dry. There are some medications that can assist in stimulating the muscle action of the esophagus. If your esophagus has narrowed, it is possible to have it periodically stretched.
Raising the head of your bed, and not lying down right after meals can help you minimize acid coming back up into your esophagus. Eating smaller meals more frequently will also help.
If you have the symptoms of Sjögren's Syndrome, there are a variety of lubricants you can use to make up for the lack of secretions. For example, artificial tears can be used as drops in your eyes. There are also mouthwashes and sprays available to increase the moisture in your mouth.
Where dryness of the mouth is pronounced, it is recommended that you have regular dental checks as there may be less flushing of the teeth than is usual. This can lead to increased tooth decay.
- Regular exercise will help you to keep the blood flowing in areas that are affected by scleroderma.
- Muscles and the other tissues that hold joints together weaken when they aren't moved enough, so the joint loses its shape and function. Doing certain exercises can help keep your muscles strong and joints moving.
There are different types of exercises:
- Range of motion exercises reduce stiffness and help keep your joints moving. A range of motion exercise for your shoulder would be to move your arm in a large circle.
- Strengthening exercises maintain or increase muscle strength.
- Endurance exercises strengthen your heart, give you energy and keep your body flexible. These exercises include walking, swimming and cycling.
- Moderate stretching exercises help relieve the pain and keep the muscles and tendons around an affected joint flexible and strong.
Always consult your doctor before beginning an exercise program.
Protect Your Body and Joints
Protecting your joints means using them in ways that avoid excess stress. Benefits include less pain and greater ease in doing tasks. Three main techniques to protect your joints are:
Pacing, by alternating heavy or repeated tasks with easier tasks or breaks, reduces the stress on painful joints and allows weakened muscles to rest.
Positioning joints wisely helps you use them in ways that avoid extra stress. Use larger, stronger joints to carry loads. For example, use a shoulder bag instead of a hand-held one. Also, avoid keeping the same position for a long period of time.
Using helpful devices, such as canes, luggage carts, grocery carts and reaching aids, can help make daily tasks easier. Small appliances such as microwaves, food processors and bread makers can be useful in the kitchen. Using grab bars and shower seats in the bathroom can help you to conserve energy and avoid falls.
Developing good relaxation and coping skills can give you a greater feeling of control over your arthritis and a more positive outlook.
Where lack of blood circulation is a marked problem with scleroderma, surgical sympathectomy is sometimes done. During this procedure the nerves in the spine that causes spasms in the blood vessels are divided to lessen the chance of future spasms.
The course of scleroderma varies widely from person to person. Those forms of scleroderma that involve major organs, such as the heart and kidney, are more severe and can possibly lead to death. The five-year survival rate of people diagnosed with severe scleroderma is 80-85%. For people with a form of the disease that affects primarily the skin, without major organ involvement, the long-term outlook is more favourable.