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.

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:

• Calcinosis (KAL-sin-OH-sis): the formation of calcium deposits in the connective tissues, which can be detected by x ray. They are typically found on the fingers, hands, face, and trunk and on the skin above elbows and knees. When the deposits break through the skin, painful ulcers can result.
• Raynaud's (ray-NOHZ) phenomenon: a condition in which the small blood vessels of the hands and/or feet contract in response to cold or anxiety. As the vessels contract, the hands or feet turn white and cold, then blue. As blood flow returns, they become red. Fingertip tissues may suffer damage, leading to ulcers, scars, or gangrene.
• Esophageal (eh-SOFF-uh-GEE-ul) dysfunction: impaired function of the esophagus (the tube connecting the throat and the stomach) that occurs when smooth muscles in the esophagus lose normal movement. In the upper esophagus, the result can be swallowing difficulties; in the lower esophagus, the problem can cause chronic heartburn or inflammation.
• Sclerodactyly (SKLER-oh-DAK-till-ee): thick and tight skin on the fingers, resulting from deposits of excess collagen within skin layers. The condition makes it harder to bend or straighten the fingers. The skin may also appear shiny and darkened, with hair loss.
• Telangiectasias (tel-AN-jee-ek-TAY-zee-uhs): small red spots on the hands and face that are caused by the swelling of tiny blood vessels. While not painful, these red spots can create cosmetic problems.

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:

• Don't smoke! Smoking narrows the blood vessels even more and makes Raynaud's phenomenon worse.
• Dress warmly, with special attention to hands and feet. Dress in layers and try to stay indoors during cold weather.
• Use biofeedback (to control various body processes that are not normally thought of as being under conscious control) and relaxation exercises.
• For severe cases, speak to your doctor about prescribing drugs called calcium channel blockers, such as nifedipine (Procardia), which can open up small blood vessels and improve circulation. Other drugs are in development and may become available in the future.
• If Raynaud's leads to skin sores or ulcers, increasing your dose of calcium channel blockers (under the direction of your doctor ONLY) may help. You can also protect skin ulcers from further injury or infection by applying nitroglycerine paste or antibiotic cream. Severe ulcerations on the fingertips can be treated with bioengineered skin.

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:

• Apply oil-based creams and lotions frequently, and always right after bathing.
• Apply sunscreen before you venture outdoors, to protect against further damage by the sun's rays.
• Use humidifiers to moisten the air in your home in colder winter climates. (Clean humidifiers often to stop bacteria from growing in the water.)
• Avoid very hot baths and showers, as hot water dries the skin.
• Avoid harsh soaps, household cleaners, and caustic chemicals, if at all possible. If that's not possible, be sure to wear rubber gloves when you use such products.
• Exercise regularly. Exercise, especially swimming, stimulates blood circulation to affected areas.

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.

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.) 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.

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.