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Scleroderma

Scleroderma is an autoimmune disorder that causes an abnormal growth of skin and other connective tissues. The term, derived from Greek, means “hard skin” and refers to the hard, tight skin that develops in many of those affected.

Scleroderma is more common in women, but the disease also occurs in men and children. It affects people of all races and ethnic groups.

In scleroderma, the immune system stimulates cells called fibroblasts to produce too much collagen. The collagen forms thick connective tissue that builds up within the skin and internal organs, such as the heart, lung and kidneys, and can interfere with their functioning. Blood vessels and joints can also be affected.

Types of Scleroderma

Scleroderma Types

Scleroderma falls into two main classes: localized scleroderma that affects only certain parts of the body and systemic sclerosis that affects the whole body.

A. Localized Scleroderma

Localized scleroderma does not progress to the systemic form of the disease. Localized forms of scleroderma can improve or go away on their own over time, but the skin changes and damage that occur when the disease is active can be permanent. For some people, localized scleroderma is serious and disabling.

There are two basic types of localized scleroderma:

1) Morphea

Morphea refers to local patches of scleroderma.

Morphea can be either localized or generalized. Localized morphea limits itself to one or several patches, ranging in size from ½ inch to 12 inches in diameter. The disease is referred to as generalized morphea when the skin patches become very hard and dark and spread over larger areas of the body. Regardless of the type, morphea generally fades out in 3-5 years. However, people are often left with darkened skin patches and, in rare cases, muscle weakness.

Morphea usually appears in people between the ages of 20 and 40.

2) Linear Scleroderma

Linear scleroderma describes a single line or band of thickened or abnormally colored skin. Usually, the line runs down an arm or leg, but in some people it runs down the forehead. The term term “en coup de sabre”, or “sword stroke,” may be used describe this visible line.

Linear scleroderma usually occurs in children and teenagers.

Some people have both morphea and linear scleroderma.

B. Generalized Scleroderma

Limited cutaneous scleroderma

Limited cutaneous scleroderma tends to develop gradually and affects the skin only in certain areas: the fingers, hands, face, lower arms, and legs.

Most people with limited disease have Raynaud’s phenomenon for years before skin thickening starts. Telangiectasia and calcinosis often follow. Gastrointestinal involvement commonly occurs, and some patients have severe lung problems, even though the skin thickening remains limited.

People with limited disease often have all or some of the symptoms that some doctors call CREST, which stands for the following:

Diffuse cutaneous scleroderma

This condition typically comes on suddenly. Skin thickening begins in the hands and spreads quickly and over much of the body, affecting the hands, face, upper arms, upper legs, chest, and stomach in a symmetrical fashion (for example, if one arm or one side of the trunk is affected, the other is also affected). Some people may have more area of their skin affected than others. Internally, this condition can damage key organs such as the intestines, lungs, heart, and kidneys.

People with diffuse disease often are tired, lose appetite and weight, and have joint swelling or pain. Skin changes can cause the skin to swell, appear shiny, and feel tight and itchy.

The damage of diffuse scleroderma typically occurs over a few years. After the first 3 to 5 years, people with diffuse disease often enter a stable phase lasting for varying lengths of time. During this phase, symptoms subside: joint pain eases, fatigue lessens, and appetite returns. Progressive skin thickening and organ damage decrease.

Gradually, however, the skin may begin to soften, which tends to occur in reverse order of the thickening process: the last areas thickened are the first to begin softening. Some patients’ skin returns to a somewhat normal state, while other patients are left with thin, fragile skin without hair or sweat glands. Serious new damage to the heart, lungs, or kidneys is unlikely to occur, although patients are left with whatever damage they have in specific organs.

People with diffuse scleroderma face the most serious long-term outlook if they develop severe kidney, lung, digestive, or heart problems. Fortunately, less than one-third of patients with diffuse disease develop these severe problems. Early diagnosis and continual and careful monitoring are important.

What Causes Scleroderma?

Although scientists don’t know exactly what causes scleroderma, they are certain that people cannot catch it from or transmit it to others. Studies of twins suggest it is also not inherited. Scientists suspect that scleroderma comes from several factors that may include:

How Is Scleroderma Diagnosed?

Once your doctor has taken a thorough medical history, he or she will perform a physical exam. Finally, your doctor may order lab tests to help confirm a suspected diagnosis. At least two proteins, called antibodies, are commonly found in the blood of people with scleroderma:

A number of other scleroderma-specific antibodies can occur in people with scleroderma, although less frequently. When present, however, they are helpful in clinical diagnosis and may give additional information as to the risks for specific organ problems.

Because not all people with scleroderma have these antibodies and because not all people with the antibodies have scleroderma, lab test results alone cannot confirm the diagnosis.

In some cases, your doctor may order a skin biopsy (the surgical removal of a small sample of skin for microscopic examination) to aid in or help confirm a diagnosis. However, skin biopsies also have their limitations: biopsy results cannot distinguish between localized and systemic disease, for example.

Diagnosing scleroderma is easiest when a person has typical symptoms and rapid skin thickening. In other cases, a diagnosis may take months, or even years, as the disease unfolds and reveals itself and as the doctor is able to rule out some other potential causes of the symptoms. In some cases, a diagnosis is never made, because the symptoms that prompted the visit to the doctor go away on their own.

How Is Scleroderma Treated?

There is currently no treatment that controls or stops the underlying problem, the overproduction of collagen. Thus, treatment and management focus on relieving symptoms and limiting damage.

Your treatment will depend on the particular problems you are having. Some treatments will be prescribed or given by your doctor. Others are things you can do on your own.

Here is a listing of the potential problems that can occur in systemic scleroderma and the medical and nonmedical treatments for them. These problems do not occur as a result or complication of localized scleroderma. This listing is not complete because different people experience different problems with scleroderma and not all treatments work equally well for all people.

Work with your doctor to find the best treatment for your specific symptoms.

Raynaud’s phenomenon

More than 90% of people with scleroderma have this condition, in which the fingers and sometimes other extremities change color in response to cold temperature or anxiety.

If you have Raynaud’s phenomenon, the following measures may make you more comfortable and help prevent problems:

Stiff, painful joints

In diffuse systemic sclerosis, hand joints can stiffen because of hardened skin around the joints or inflammation within them. Other joints can also become stiff and swollen.

Skin problems

When too much collagen builds up in the skin, it crowds out sweat and oil glands, causing the skin to become dry and stiff. If your skin is affected, try the following:

Dry mouth and dental problems

Dental problems are common in people with scleroderma for a number of reasons. Tightening facial skin can make the mouth opening smaller and narrower, which makes it hard to care for teeth; dry mouth caused by salivary gland damage speeds up tooth decay; and damage to connective tissues in the mouth can lead to loose teeth. You can avoid tooth and gum problems in several ways:

Gastrointestinal (GI) problems

Systemic sclerosis can affect any part of the digestive system. As a result, you may experience problems such as heartburn, difficulty swallowing, early satiety (the feeling of being full after you’ve barely started eating), or intestinal complaints such as diarrhea, constipation, and gas. In cases where the intestines are damaged, your body may have difficulty absorbing nutrients from food. Although GI problems are diverse, here are some things that might help at least some of the problems you have:

Lung damage

Virtually all people with systemic sclerosis have some loss of lung function. Some develop severe lung disease, which comes in two forms: pulmonary fibrosis (hardening or scarring of lung tissue because of excess collagen) and pulmonary hypertension (high blood pressure in the artery that carries blood from the heart to the lungs). Treatment for the two conditions is different:

Regardless of your particular lung problem or its medical treatment, your role in the treatment process is essentially the same. To minimize lung complications, work closely with your medical team. Do the following:

Heart problems

Common among people with scleroderma, heart problems include scarring and weakening of the heart (cardiomyopathy), inflamed heart muscle (myocarditis), and abnormal heartbeat (arrhythmia). All of these problems can be treated. Treatment ranges from drugs to surgery and varies depending on the nature of the condition.

Kidney problems

Renal crisis occurs in about 10% of all patients with scleroderma, primarily those with early diffuse scleroderma. Renal crisis results in severe uncontrolled high blood pressure, which can quickly lead to kidney failure. It’s very important that you take measures to identify and treat the hypertension as soon as it occurs. These are things you can do:

Cosmetic problems

Even if scleroderma doesn’t cause any lasting physical disability, its effects on the skin’s appearance—particularly on the face—can take their toll on your self-esteem. Fortunately, there are procedures to correct some of the cosmetic problems scleroderma causes:

How Can Scleroderma Affect My Life?

Having a chronic disease can affect almost every aspect of your life, from family relationships to holding a job. For people with scleroderma, there may be other concerns about appearance or even the ability to dress, bathe, or handle the most basic daily tasks. Here are some areas in which scleroderma could intrude.

Appearance and self-esteem: Aside from the initial concerns about health and longevity, people with scleroderma quickly become concerned with how the disease will affect their appearance. Thick, hardened skin can be difficult to accept, particularly on the face. Systemic scleroderma may result in facial changes that eventually cause the opening to the mouth to become smaller and the upper lip to virtually disappear. Linear scleroderma may leave its mark on the forehead. Although these problems can’t always be prevented, their effects may be minimized with proper treatment. Also, special cosmetics—and in some cases plastic surgery—can help conceal scleroderma’s damage.

Caring for yourself: Tight, hard connective tissue in the hands can make it difficult to do what were once simple tasks, such as brushing your teeth and hair, pouring a cup of coffee, using a knife and fork, unlocking a door, or buttoning a jacket. If you have trouble using your hands, consult an occupational therapist, who can recommend new ways of doing things or devices to make tasks easier. Devices as simple as Velcro fasteners and built-up brush handles can help you be more independent.

Family relationships: Spouses, children, parents, and siblings may have trouble understanding why you don’t have the energy to keep house, drive to soccer practice, prepare meals, or hold a job the way you used to. If your condition isn’t that visible, they may even suggest you are just being lazy. On the other hand, they may be overly concerned and eager to help you, not allowing you to do the things you are able to do or giving up their own interests and activities to be with you. It’s important to learn as much about your form of the disease as you can and to share any information you have with your family. Involving them in counseling or a support group may also help them better understand the disease and how they can help you.

Sexual relations: Sexual relationships can be affected when systemic scleroderma enters the picture. For men, the disease’s effects on the blood vessels can lead to problems achieving an erection. For women, damage to the moisture-producing glands can cause vaginal dryness that makes intercourse painful. People of either sex may find they have difficulty moving the way they once did. They may be self-conscious about their appearance or afraid that their sexual partner will no longer find them attractive. With communication between partners, good medical care, and perhaps counseling, many of these changes can be overcome or at least worked around.

Pregnancy and childbearing: In the past, women with systemic scleroderma were often advised not to have children. But thanks to better medical treatments and a better understanding of the disease itself, that advice is changing. (Pregnancy, for example, is not likely to be a problem for women with localized scleroderma.) Although blood vessel involvement in the placenta may cause babies of women with systemic scleroderma to be born early, many women with the disease can have safe pregnancies and healthy babies if they follow some precautions.

One of the most important pieces of advice is to wait a few years after the disease starts before attempting a pregnancy. During the first 3 years, you are at the highest risk of developing severe problems of the heart, lungs, or kidneys that could be harmful to you and your unborn baby.

If you haven’t developed severe organ problems within 3 years of the disease’s onset, your chances of such problems are less and pregnancy would be safer. But it is important to have both your disease and your pregnancy monitored regularly. You’ll probably need to stay in close touch with both the doctor you typically see for your scleroderma and an obstetrician who is experienced in guiding high-risk pregnancies.