Scleroderma

Handout on Health: 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.

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:

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:

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.

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.

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:

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.

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.

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

More than 70 percent of people with scleroderma first notice this problem when their fingers turn cold or blue, typically in response to cold temperatures or emotional distress. Raynaud’s phenomenon, as the condition is called, may precede scleroderma by years. In many people, however, Raynaud’s phenomenon is unrelated to scleroderma, but may signal damage to the blood vessels supplying the hands arising from such conditions as occupational injuries (from using jackhammers, for example), trauma, excessive smoking, circulatory problems, and drug use or exposure to toxic substances. For some people, cold fingers (and toes) are the extent of the problem and are little more than a nuisance. For others, the condition can worsen and lead to puffy fingers, finger ulcers, and other complications that require aggressive treatment.

  • 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:
    • Exercise regularly. Ask your doctor or physical therapist about an exercise plan that will help you increase and maintain range of motion in affected joints. Swimming can help maintain muscle strength, flexibility, and joint mobility.
    • Use acetaminophen or an over-the-counter or prescription nonsteroidal anti-inflammatory drug, as recommended by your doctor, to help relieve joint or muscle pain. If pain is severe, speak to a rheumatologist about the possibility of prescription-strength drugs to ease pain and inflammation.
    • Learn to do things in a new way. A physical or occupational therapist can help you learn to perform daily tasks, such as lifting and carrying objects or opening doors, in ways that will put less stress on tender joints.
  • 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:
    • Brush and floss your teeth regularly. (If hand pain and stiffness make this difficult, consult your doctor or an occupational therapist about specially made toothbrush handles and devices to make flossing easier.)
    • Have regular dental checkups. Contact your dentist immediately if you experience mouth sores, mouth pain, or loose teeth.
    • If decay is a problem, ask your dentist about fluoride rinses or prescription toothpastes that remineralize and harden tooth enamel.
    • Consult a physical therapist about facial exercises to help keep your mouth and face more flexible.
    • Keep your mouth moist by drinking plenty of water, sucking ice chips, using sugarless gum and hard candy, and avoiding mouthwashes with alcohol. If dry mouth still bothers you, ask your doctor about a saliva substitute or a prescription medication called pilocarpine hydrochloride (Salagen) that can stimulate the flow of saliva.
  • 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:
    • Eat small, frequent meals.
    • Raise the head of your bed with blocks, and stand or sit for at least an hour (preferably two or three) after eating to keep stomach contents from backing up into the esophagus.
    • Avoid late-night meals, spicy or fatty foods, and alcohol and caffeine, which can aggravate GI distress.
    • Chew foods well and eat moist, soft foods. If you have difficulty swallowing or if your body doesn’t absorb nutrients properly, your doctor may prescribe a special diet.
    • Ask your doctor about prescription medications for problems such as diarrhea, constipation, and heartburn. Some drugs called proton pump inhibitors are highly effective against heartburn. Oral antibiotics may stop bacterial overgrowth in the bowel that can be a cause of diarrhea in some people with systemic sclerosis.
  • 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.
    • Pulmonary fibrosis may be treated with drugs that suppress the immune system such as cyclophosphamide (Cytoxan) or azathioprine (Imuran), along with low doses of corticosteroids.
    • Pulmonary hypertension may be treated with drugs that dilate the blood vessels such as prostacyclin (Iloprost).
    • 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:
      • Watch for signs of lung disease, including fatigue, shortness of breath or difficulty breathing, and swollen feet. Report these symptoms to your doctor.
      • Have your lungs closely checked, using standard lung-function tests, during the early stages of skin thickening. These tests, which can find problems at the earliest and most treatable stages, are needed because lung damage can occur even before you notice any symptoms.
      • Get regular flu and pneumonia vaccines as recommended by your doctor. Contracting either illness could be dangerous for a person with lung disease.
  • 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.
    • The appearance of telangiectasias, small red spots on the hands and face caused by swelling of tiny blood vessels beneath the skin, may be lessened or even eliminated with the use of guided lasers.
    • Facial changes of localized scleroderma, such as the en coup de sabre that may run down the forehead in people with linear scleroderma, may be corrected through cosmetic surgery. (However, such surgery is not appropriate for areas of the skin where the disease is active.)

    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:

    • Get educated: Knowledge is your best defense against this disease. Learn as much as you can about scleroderma, both for your own benefit and to educate the people in your support network (see below).
    • Seek support: Recruit family members, friends, and coworkers to build a support network. This network will help you get through difficult times: when you are in pain; when you feel angry, sad, or afraid; when you’re depressed. Also, look for a scleroderma support group in your community by calling a national scleroderma organization. (See National Resources for Scleroderma, below) If you can’t find a support group, you might want to consider organizing one.
    • Assemble a health care team: You and your doctors will lead the team. Other members may include physical and occupational therapists, a psychologist or social worker, a dentist, and a pharmacist.
    • Be patient: Understand that a final diagnosis can be difficult and may take a long time. Find a doctor with experience treating people with systemic and localized scleroderma. Then, even if you don’t yet have a diagnosis, you will get understanding and the right treatment for your symptoms.
    • Speak up: When you have problems or notice changes in your condition, don’t feel too self-conscious to speak up during your appointment or even call your doctor or another member of your health care team. No problem is too small to inquire about, and early treatment for any problem can make the disease more manageable for you and your health care team.
    • Don’t accept depression: While it’s understandable that a person with a chronic illness like scleroderma would become depressed, don’t accept depression as a normal consequence of your condition. If depression makes it hard for you to function well, don’t hesitate to ask your health care team for help. You may benefit from speaking with a psychologist or social worker or from using one of the effective medications on the market.
    • Learn coping skills: Skills like meditation, calming exercises, and relaxation techniques may help you cope with emotional difficulties as well as help relieve pain and fatigue. Ask a member of your health care team to teach you these skills or to refer you to someone who can.
    • Ask the experts: If you have problems doing daily activities, from brushing your hair and teeth to driving your car, consult an occupational or physical therapist. They have more helpful hints and devices than you can probably imagine. Social workers can often help resolve financial and insurance matters.

    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:

    • The use of a hormone produced in pregnancy to soften skin lesions. Early studies suggest relaxin, a hormone that helps a woman’s body to stretch to meet the demands of a growing pregnancy and delivery, may soften the connective tissues of women with scleroderma. The hormone is believed to work by blocking fibrosis, or the development of fibrous tissue between the body’s cells.
    • Finding a gene associated with scleroderma in Oklahoma Choctaw Native Americans. Scientists believe the gene, which codes for a protein called fibrillin-1, may put people at risk for the disease.
    • The use of the drug Iloprost for pulmonary hypertension. This drug has increased the quality of life and life expectancy for people with this dangerous form of lung damage.
    • The use of the drug cyclophosphamide (Cytoxan) for lung fibrosis. One recent study suggested that treating lung problems early with this immunosuppressive drug may help prevent further damage and increase chances of survival.
    • The increased use of ACE inhibitors for scleroderma-related kidney problems. For the past two decades, ACE inhibitors have greatly reduced the risk of kidney failure in people with scleroderma. Now there is evidence that use of ACE inhibitors can actually heal the kidneys of people on dialysis for scleroderma-related kidney failure. As many as half of people who continue ACE inhibitors while on dialysis may be able to go off dialysis in 12 to 18 months.

    Other studies are examining the following:

    • Changes in the tiny blood vessels of people with scleroderma. By studying these changes, scientists hope to find the cause of cold sensitivity in Raynaud’s phenomenon and how to control the problem.
    • Immune system changes (and particularly how those changes affect the lungs) in people with early diffuse systemic sclerosis.
    • The role of blood vessel malfunction, cell death, and autoimmunity in scleroderma.
    • Skin changes in laboratory mice in which a genetic defect prevents the breakdown of collagen, leading to thick skin and patchy hair loss. Scientists hope that by studying these mice, they can answer many questions about skin changes in scleroderma.
    • The effectiveness of various treatments, including (1) methotrexate, a drug commonly used for rheumatoid arthritis and some other inflammatory forms of arthritis; (2) collagen peptides administered orally; (3) halofugione, a drug that inhibits the synthesis of type I collagen, which is the primary component of connective tissue; (4) ultraviolet light therapy for localized forms of scleroderma; and (5) stem cell transfusions, a form of bone marrow transplant that uses a patient’s own cells, for early diffuse systemic sclerosis.

    Scleroderma research continues to advance as scientists and doctors learn more about how the disease develops and its underlying mechanisms.

    Recently, the NIAMS funded a Specialized Center of Research (SCOR) in scleroderma at the University of Texas-Houston. SCOR scientists are conducting laboratory and clinical research on the disease. The SCOR approach allows researchers to translate basic science findings quickly into improved treatment and patient care.

    More Questions? Count on More Answers!

    Scleroderma poses a series of challenges for both patients and their health care teams. The good news is that scientists, doctors, and other health care professionals continue to find new answers–ways to make earlier diagnoses and manage disease better. In addition, active patient support groups share with, care for, and educate each other. The impact of all of this activity is that people with scleroderma do much better and remain active far longer than they did 20 or 30 years ago. As for tomorrow, patients and the medical community will continue to push for longer, healthier, and more active lives for people with the diseases collectively known as scleroderma.

    Phototherapy & Scleroderma: Phototherapy (PUVA, Narrow band or broad band UVB) is useful when larger body areas are affected by scleroderma (www.aocd.org/skin/dermatologic_diseases/ctcl.html). If the doctor thinks that phototherapy may be useful to treat the symptoms of scleroderma (mycosis fungoides), he or she will use the minimum exposure necessary and monitor the skin carefully.

    The Daavlin Company is a manufacturer and distributor of phototherapy equipment in UVA, Narrow Band UVB and Broad Band UVB and combinations of these. Information is available for patients looking to acquire a unit for home use and also for dermatologists seeking to buy for their clinic environment. We would also be happy to direct you to a physician that specializes in the treatment of scleroderma with UV light.

    National Resources for Scleroderma
    National Institute of Arthritis and Musculoskeletal
    and Skin Diseases Information Clearinghouse
    NIAMS/National Institutes of Health
    1 AMS Circle
    Bethesda, MD 20892-3675
    (301) 495-4484 or (877) 22-NIAMS (226-4267) (free of charge)
    TTY: (301) 565-2966
    Fax: (301) 718-6366
    www.niams.nih.gov

    This clearinghouse, a public service sponsored by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), provides information about various forms of arthritis and rheumatic diseases. The clearinghouse distributes patient and professional education materials and also refers people to other sources of information.

    American Academy of Dermatology
    P.O. Box 4014
    Schaumburg, IL 60168-4014
    (847) 330-0230
    www.aad.org

    This national professional association for dermatologists publishes a pamphlet on skin conditions and can also provide physician referrals.

    American College of Rheumatology
    1800 Century Place, Suite 250
    Atlanta, GA 30345
    (404) 633-3777
    Fax: (404) 633-1870
    www.rheumatology.org

    This association provides referrals to doctors and health professionals who work on arthritis, rheumatic diseases, and related conditions. The association also provides educational materials and guidelines.

    Scleroderma Foundation
    12 Kent Way, #101
    Byfield, MA 01922
    (800) 722-HOPE (free of charge) or (978) 463-5843
    Fax: (978) 463-5809
    E-mail: sfinfo@scleroderma.org
    www.scleroderma.org

    This voluntary organization publishes information on scleroderma and funds research. It also offers patient education seminars, support groups, physician referrals, and information hotlines.

    Scleroderma Research Foundation
    220 Montgomery Street, Suite 1411
    San Francisco, CA 94104
    Phone: 415-834-9444 or
    800-441-CURE (2873) (free of charge)
    Fax: 415-834-9177
    E-mail: srfcure@srfcure.org
    www.srfcure.org

    The Foundation’s goal is to find a cure for scleroderma by funding and facilitating the most promising, highest quality research and by placing the disease in the public eye. The Foundation distributes patient handbooks and a quarterly newsletter.

    Arthritis Foundation
    1330 West Peachtree Street
    Atlanta, GA 30309
    Call your local chapter (listed in the telephone directory), or (404) 872-7100 or (800) 283-7800 (free of charge)
    www.arthritis.org

    The foundation is a major voluntary organization devoted to supporting research on arthritis and other rheumatic diseases, such as scleroderma. It also provides up-to-date information on treatments, nutrition, alternative therapies, and self-management strategies. Chapters nationwide offer exercise programs, classes, support groups, physician referral services, and free literature.

    Glossary

    Adult celiac disease–A chronic nutritional disorder in which the body cannot effectively digest fats and wheat gluten. The condition, which results in a distended abdomen and loose, fatty stools, is associated with several autoimmune diseases.

    Amyloidosis–A disease in which excessive protein is deposited around cells in various organs and tissues of the body.

    Antibodies–Special proteins produced by the body’s immune system. They recognize and help fight infectious agents, such as bacteria and other foreign substances that invade the body. The presence of certain antibodies in the blood can help in making a diagnosis of some diseases, including some forms of scleroderma.

    Atherosclerosis–Abnormal fatty deposits in the inner layers of large or medium-sized arteries, which can lead to hardening and narrowing of the arteries and blockages of the blood supply, especially to the heart.

    Autoimmune disease–A disease in which the body’s immune system turns against and damages the body’s own tissues.

    Calcinosis–The buildup of calcium deposits in the tissues. It may occur under the skin of the fingers, arms, feet, and knees, causing pain and infection if the calcium deposits pierce the surface of the skin.

    Calcium channel blockers–Medicines that lower blood pressure, relieve chest pain, and stabilize normal heart rhythms by inhibiting calcium movement into the heart muscles and smooth muscle cells. They are used to treat a variety of conditions and to prevent circulatory and kidney problems in scleroderma.

    Colitis–An inflammatory disease of the large intestine that results in diarrhea, discharge of mucus and blood, cramping, and abdominal pain. It is characterized by swelling, inflammation, and ulceration of the mucous membrane of the intestine.

    Collagen–A fabric-like material of fibrous threads that is a key component of the body’s connective tissues. In scleroderma, too much collagen is produced or it is produced in the wrong places, causing stiff and inflamed skin, blood vessels, and internal organs.

    Connective tissue–Tissues such as skin, tendons, and cartilage that support and hold body parts together. The chief component of connective tissue is collagen.

    CREST syndrome–An acronym for a collection of symptoms that occur to some degree in all people with systemic sclerosis. The symptoms are Calcinosis, Raynaud’s phenomenon, Esophageal dysfunction, Sclerodactyly, and Telangiectasia. Because of the predominance of CREST symptoms in people with limited systemic sclerosis, some people use the term CREST syndrome when referring to that form of the disease.

    Eosinophilic fasciitis–A scleroderma-like disorder (often considered to be a localized form of scleroderma) featuring inflammation of the fascia (the thin, sheet-like connective tissues surrounding the muscles and other body structures) and an abnormally high number of a specific kind of white blood cells (eosinophils). The result of the inflammation may be fibrous buildup in the skin of arms and legs, contractures, and carpal tunnel syndrome.

    Esophageal dysfunction–Improper functioning of the esophagus (the tube that attaches the throat to the stomach) that can lead to heartburn and swallowing problems.

    Fibroblast–A type of cell in connective tissue that secretes proteins, including collagen.

    Fibrosis–A condition marked by increased fibrous tissue that develops between the cells of various organs or tissues. It is a common feature of scleroderma and some other diseases. Fibrosis causes hardening or stiffening of tissues in the skin, joints, and internal organs.

    Graft–versus-host disease-A major complication of bone marrow transplantations and sometimes blood transfusions in which white blood cells, called lymphocytes, in the marrow or blood attack tissues in the body into which they were transplanted.

    Human adjuvant disease–An autoimmune syndrome in which the body becomes extremely sensitive to a foreign material injected into the body.

    Mycosis fungoides–A form of lymph cancer characterized by scaly skin patches. It progresses over several years to form elevated skin lesions and then tumors.

    Pulmonary fibrosis–Hardening or scarring of lung tissue because of excess collagen. Pulmonary fibrosis occurs in a small percentage of people with systemic sclerosis.

    Pulmonary hypertension–Abnormally high blood pressure in the arteries supplying the lungs that may be caused by a number of factors, including damage from fibrosis.

    Raynaud’s phenomenon–A disorder of the small blood vessels of the extremities, causing coldness and reduced blood flow. In response to cold or anxiety, these vessels go into spasms, causing pain, the sensations of burning and tingling, and color changes.

    Rheumatic–An adjective used to describe a group of conditions characterized by inflammation or pain in the muscles, joints, and fibrous tissue. Rheumatic diseases or disorders can be related to autoimmunity or other causes.

    Sclerodactyly–The hard, shiny appearance of fingers caused by excess connective tissue buildup. This is a common feature of scleroderma, but it may also occur in other conditions.

    Systemic condition–A condition involving the body as a whole, as opposed to limited conditions that affect particular parts of the body.

    Systemic lupus erythematosus–A systemic rheumatic disease that occurs predominantly in women and is characterized by autoimmune activity, a facial rash across the bridge of the nose and cheeks, Raynaud’s phenomenon, joint pain and swelling, fever, chest pain, hair loss, and other symptoms. Many of its symptoms overlap with those of scleroderma.

    Telangiectasia–Small red dots, usually on the face and hands, resulting from tiny blood vessels showing through the skin’s surface.

    Acknowledgments The NIAMS gratefully acknowledges the assistance of Reva Lawrence, M.P.H., Susana Serrate-Sztein, M.D., Alan Moshell, M.D., and Barbara Mittleman, M.D., NIAMS, NIH; Stanley Pillemer, M.D., National Institute of Dental and Craniofacial Research; Philip Clements, M.D., University of California at Los Angeles; Vincent Falanga, M.D., Boston University; E. Carwile LeRoy, Medical University of South Carolina, Charleston; Morris Reichlen, M.D., Oklahoma Medical Research Foundation, Oklahoma City; Larry Solomon, M.D., Lutheran General Children’s Hospital, Park Ridge, IL; Virginia Steen, M.D., Georgetown University Medical Center, Washington, DC; Barbara White, M.D., University of Maryland at Baltimore; and the Scleroderma Foundation, Byfield, MA, in the preparation and review of this manuscript. Special thanks also go to the patients who reviewed this publication and provided valuable assistance. Mary Anne Dunkin was the primary author of this booklet.

    The mission of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), a part of the National Institutes of Health (NIH), is to support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on the progress of research in these diseases. The National Institute of Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse is a public service sponsored by the NIAMS that provides health information and information sources. Additional information can be found on the NIAMS Web site at www.niams.nih.gov.