Scleroderma

This booklet is for people who have scleroderma, as well as for their family members, friends, and others who want to find out more about the disease. This booklet describes the different forms of scleroderma and provides information on their symptoms, diagnosis, and treatment, including what patients can do to help manage their disease and the problems associated with it. It also highlights current research efforts into the understanding and treatment of scleroderma, many of which are supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and other components of the National Institutes of Health (NIH). If you have further questions after reading this booklet, you may wish to discuss them with your doctor.

What Is Scleroderma?

Derived from the Greek words "sklerosis," meaning hardness, and "derma," meaning skin, scleroderma literally means hard skin. Though it is often referred to as if it were a single disease, scleroderma is really a symptom of a group of diseases that involve the abnormal growth of connective tissue, which supports the skin and internal organs. It is sometimes used, therefore, as an umbrella term for these disorders. In some forms of scleroderma, hard, tight skin is the extent of this abnormal process. In other forms, however, the problem goes much deeper, affecting blood vessels and internal organs, such as the heart, lungs, and kidneys.

Scleroderma is called both a rheumatic (roo-MA-tik) disease and a connective tissue disease. The term rheumatic disease refers to a group of conditions characterized by inflammation and/or pain in the muscles, joints, or fibrous tissue. A connective tissue disease is one that affects the major substances in the skin, tendons, and bones.

In this booklet we'll discuss the forms of scleroderma and the problems with each of them as well as diagnosis and disease management. We'll also take a look at what research is telling us about their possible causes and most effective treatments, and ways to help people with scleroderma live longer, healthier, and more productive lives.

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What Are the Different Types of Scleroderma?

The group of diseases we call scleroderma falls into two main classes: localized scleroderma and systemic sclerosis. (Localized diseases affect only certain parts of the body; systemic diseases can affect the whole body.) Both groups include subgroups. (See chart.) Although there are different ways these groups and subgroups may be broken down or referred to (and your doctor may use different terms from what you see here), the following is a common way of classifying these diseases:

Localized Scleroderma

Localized types of scleroderma are those limited to the skin and related tissues and, in some cases, the muscle below. Internal organs are not affected by localized scleroderma, and localized scleroderma can never progress to the systemic form of the disease. Often, localized conditions 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 generally recognized types of localized scleroderma:

Morphea: Morphea (mor-FEE-ah) comes from a Greek word that means "form" or "structure." The word refers to local patches of scleroderma. The first signs of the disease are reddish patches of skin that thicken into firm, oval-shaped areas. The center of each patch becomes ivory colored with violet borders. These patches sweat very little and have little hair growth. Patches appear most often on the chest, stomach, and back. Sometimes they appear on the face, arms, and legs.

Morphea can be either localized or generalized. Localized morphea limits itself to one or several patches, ranging in size from a half-inch to 12 inches in diameter. The condition sometimes appears on areas treated by radiation therapy. Some people have both morphea and linear scleroderma (described below). 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 to 5 years; however, people are often left with darkened skin patches and, in rare cases, muscle weakness.

Linear scleroderma: As suggested by its name, the disease has a single line or band of thickened and/or abnormally colored skin. Usually, the line runs down an arm or leg, but in some people it runs down the forehead. People sometimes use the French term en coup de sabre, or "sword stroke," to describe this highly visible line.

Systemic Scleroderma (also known as Systemic Sclerosis)

Systemic scleroderma, or systemic sclerosis, is the term for the disease that not only includes the skin, but also involves the tissues beneath to the blood vessels and major organs. Systemic sclerosis is typically broken down into diffuse and limited disease. People with systemic sclerosis often have all or some of the symptoms that some doctors call CREST, which stands for the following:

Limited scleroderma: Limited scleroderma typically comes on gradually and affects the skin only in certain areas: the fingers, hands, face, lower arms, and legs. Many people with limited disease have Raynaud's phenomenon for years before skin thickening starts. Others start out with skin problems over much of the body, which improves over time, leaving only the face and hands with tight, thickened skin. Telangiectasias and calcinosis often follow. Because of the predominance of CREST in people with limited disease, some doctors refer to limited disease as the CREST syndrome.

Diffuse scleroderma: Diffuse scleroderma typically comes on suddenly. Skin thickening occurs 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, it can damage key organs such as the heart, lungs, and kidneys.

People with diffuse disease are often tired, lose appetite and weight, and have joint swelling and/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, skin thickness and appearance stay about the same. Damage to internal organs progresses little, if at all. Symptoms also subside: joint pain eases, fatigue lessens, and appetite returns.

Gradually, however, the skin starts to change again. Less collagen is made and the body seems to get rid of the excess collagen. This process, called "softening," 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. More serious damage to heart, lungs, or kidneys is unlikely to occur unless previous damage leads to more advanced deterioration.

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 problems. Early diagnosis and continual and careful monitoring are important.

Sine scleroderma: Some doctors break systemic sclerosis down into a third subset called systemic sclerosis sine (SEEN-ay, Latin for "without") scleroderma. Sine may resemble either limited or diffuse systemic sclerosis, causing changes in the lungs, kidneys, and blood vessels. However, there is one key difference between sine and other forms of systemic sclerosis: it does not affect the skin.

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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:

Abnormal immune or inflammatory activity: Like many other rheumatic disorders, scleroderma is believed to be an autoimmune disease. An autoimmune disease is one in which the immune system, for unknown reasons, turns against one's own body.

In scleroderma, the immune system is thought to stimulate cells called fibroblasts to produce too much collagen. In scleroderma, collagen forms thick connective tissue that builds up around the cells of the skin and internal organs. In milder forms, the effects of this buildup are limited to the skin and blood vessels. In more serious forms, it also can interfere with normal functioning of skin, blood vessels, joints, and internal organs.

Genetic makeup: While genes seem to put certain people at risk for scleroderma and play a role in its course, the disease is not passed from parent to child like some genetic diseases.

However, some research suggests that having children may increase a woman's risk of scleroderma. Scientists have learned that when a woman is pregnant, cells from her baby can pass through the placenta, enter her blood stream, and linger in her body--in some cases, for many years after the child's birth. Recently, scientists have found fetal cells from pregnancies of years past in the skin lesions of some women with scleroderma. They think that these cells, which are different from the woman's own cells, may either begin an immune reaction to the woman's own tissues or trigger a response by the woman's immune system to rid her body of those cells. Either way, the woman's healthy tissues may be damaged in the process. Further studies are needed to find out if fetal cells play a role in the disease.

Environmental triggers: Research suggests that exposure to some environmental factors may trigger the disease in people who are genetically predisposed to it. Suspected triggers include viral infections, certain adhesive and coating materials, and organic solvents such as vinyl chloride or trichloroethylene. In the past, some people believed that silicone breast implants might have been a factor in developing connective tissue diseases such as scleroderma. But several studies have not shown evidence of a connection.

Hormones: By the middle to late childbearing years (ages 30 to 55), women develop scleroderma at a rate 7 to 12 times higher than men. Because of female predominance at this and all ages, scientists suspect that something distinctly feminine, such as the hormone estrogen, plays a role in the disease. So far, the role of estrogen or other female hormones has not been proven.

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Who Gets Scleroderma?

Although scleroderma is more common in women, the disease also occurs in men and children. It affects people of all races and ethnic groups. However, there are some patterns by disease type. For example:

Because scleroderma can be hard to diagnose and it overlaps with or resembles other diseases, scientists can only estimate how many cases there actually are. Estimates for the number of people in the United States with systemic sclerosis range from 40,000 to 165,000. By contrast, a survey that included all scleroderma-related disorders, including Raynaud's phenomenon, suggested a number between 250,000 and 992,500.

For some people, scleroderma (particularly the localized forms) is fairly mild and resolves with time. But for others, living with the disease and its effects day to day has a significant impact on their quality of life.

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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, one of the first fears people with scleroderma have is 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 and skin care. 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.

* Brand names included in this booklet are provided as examples only, and their inclusion does not mean that these products are endorsed by the National Institutes of Health or any other Government agency. Also, if a particular brand name is not mentioned, this does not mean or imply that the product is unsatisfactory.

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, and 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 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. In 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 organ problems within 3 years of the disease's onset, chances are you won't, and pregnancy should be safe. But it is important to have both your disease and your pregnancy monitored regularly. You'll probably need to stay in close touch with the doctor you typically see for your scleroderma as well as an obstetrician experienced in guiding high-risk pregnancies.

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How Is Scleroderma Diagnosed?

Depending on your particular symptoms, a diagnosis of scleroderma may be made by a general internist, a dermatologist (a doctor who specializes in treating diseases of the skin, hair, and nails), an orthopaedist (a doctor who treats bone and joint disorders), a pulmonologist (lung specialist), or a rheumatologist (a doctor specializing in treatment of rheumatic diseases). A diagnosis of scleroderma is based largely on the medical history and findings from the physical exam. To make a diagnosis, your doctor will ask you a lot of questions about what has happened to you over time and about any symptoms you may be experiencing. Are you having a problem with heartburn or swallowing? Are you often tired or achy? Do your hands turn white in response to anxiety or cold temperatures?

Once your doctor has taken a thorough medical history, he or she will perform a physical exam. Finding one or more of the following factors can help the doctor diagnose a certain form of scleroderma:

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.

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, too, 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.

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What Other Conditions Can Look Like Scleroderma?

Symptoms similar to those seen in scleroderma can occur with a number of other diseases. Here are some of the most common scleroderma lookalikes:

At other times, symptoms resembling those of scleroderma can be the result of an unrelated disease or condition. For example:

An explanation of most of these other diseases is beyond the scope of this booklet (for brief definitions, see the glossary). What's important to understand, however, is that scleroderma isn't always easy to diagnose; it may take time for you and your doctor to establish a diagnosis. And while having a definite diagnosis may be helpful, knowing the precise form of your disease is not needed to receive proper treatment.

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How Is Scleroderma Treated?

Because scleroderma can affect many different organs and organ systems, you may have several different doctors involved in your care. Typically, care will be managed by a rheumatologist, a specialist who treats people with diseases of the joints, bones, muscles, and immune system. Your rheumatologist may refer you to other specialists, depending on the specific problems you are having: for example, a dermatologist for the treatment of skin symptoms, a nephrologist for kidney complications, a cardiologist for heart complications, a gastroenterologist for problems of the digestive tract, and a pulmonary specialist for lung involvement.

In addition to doctors, professionals like nurse practitioners, physician assistants, physical or occupational therapists, psychologists, and social workers may play a role in your care. Dentists, orthodontists, and even speech therapists can treat oral complications that arise from thickening of tissues in and around the mouth and on the face.

Currently, there is no treatment that controls or stops the underlying problem--the overproduction of collagen--in all forms of scleroderma. 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 physician. Others are things you can do on your own.

Here are some 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.)

[Note: This is not a complete listing of problems or their treatments. 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: One of the most common problems associated with scleroderma, Raynaud's phenomenon can be uncomfortable and can lead to painful skin ulcers on the fingertips. Smoking makes the condition worse. 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 of the joints themselves. Other joints can also become stiff and swollen. The following may help:

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, you may need to see a dermatologist. To ease dry skin, 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 due to 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: About 10 to 15 percent of people with systemic sclerosis 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 the problem or its 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: About 15 to 20 percent of people with systemic sclerosis develop heart problems, including scarring and weakening of the heart (cardiomyopathy), inflamed heart muscle (myocarditis), and abnormal heart beat (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: About 15 to 20 percent of people with diffuse systemic sclerosis develop severe kidney problems, including loss of kidney function. Because uncontrolled high blood pressure can quickly lead to kidney failure, it's important that you take measures to minimize the problem. 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.

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How Can I Play a Role in My Health Care?

Although your doctors direct your treatment, you are the one who must take your medicine regularly, follow your doctor's advice, and report any problems promptly. In other words, the relationship between you and your doctors is a partnership, and you are the most important partner. Here's what you can do to make the most of this important role:

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Is Research Close to Finding a Cure?

No one can say for sure when--or if--a cure will be found. But research is providing the next best thing: better ways to treat symptoms, prevent organ damage, and improve the quality of life for people with scleroderma. In the past two decades, multidisciplinary research has also provided new clues to understanding the disease, which is an important step toward prevention or cure.

Leading the way in funding for this research is the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), a part of the National Institutes of Health (NIH). Other sources of funding for scleroderma research include pharmaceutical companies and organizations such as the Scleroderma Foundation, the Scleroderma Research Foundation, and the Arthritis Foundation. Scientists at universities and medical centers throughout the United States conduct much of this research.

Studies of the immune system, genetics, cell biology, and molecular biology have helped reveal the causes of scleroderma, improve existing treatment, and create entirely new treatment approaches.

Research advances in recent years that have led to a better understanding of and/or treatment for the diseases include:

Other studies are examining the following: