Publication Date: May 2001
Revised July 2006
Handout on Health: Scleroderma
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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. This booklet 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 U.S.
Department of Health and Human Services’ 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. Although 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 or pain in the muscles, joints, or fibrous tissue.
A connective tissue disease is one that affects tissues such as skin, tendons,
In this booklet we’ll discuss the forms of scleroderma and the problems
associated 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 we will describe ways for people with scleroderma
to 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:
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
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,
Linear scleroderma: As suggested by its name, the
disease is characterized by 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. 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)
This is the term for the form of the disease that not only includes the skin,
but also involves the tissues beneath, the blood vessels, and the major organs.
Systemic sclerosis is typically broken down into limited cutaneous
scleroderma and diffuse cutaneous scleroderma. Some doctors break
systemic sclerosis down into a third subset called systemic sclerosis sine
(SEEN-ay, Latin for “without”) scleroderma. This means that patients have
other manifestations of scleroderma but they do not have any overt skin
Limited cutaneous scleroderma: Limited cutaneous
scleroderma typically comes on 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. (See definitions below.)
Gastrointestinal involvement occurs commonly, 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:
- Calcinosis (KAL-sin-OH-sis): the formation of
calcium deposits in the connective tissues, which can be detected by x ray.
These deposits 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 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 and lower esophagus, the result can be swallowing
difficulties. In the lower esophagus, the result can be chronic heartburn or
- 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.
- Telangiectasia (tel-AN-jee-ek-TAY-zee-uhs): a
condition caused by the swelling of tiny blood vessels, in which small red
spots appear on the hands and face. Although not painful, these red spots can
create cosmetic problems.
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
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
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 so they produce too much collagen. The collagen forms thick
connective tissue that builds up within the skin and internal organs and can
interfere with their functioning. Blood vessels and joints can also be
Genetic makeup: Although 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.
Environmental triggers: Research suggests that
exposure to some environmental factors may trigger scleroderma-like disease
(which is not actually scleroderma) 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. But
no environmental agent has been shown to cause scleroderma. 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
(age 30 to 55), women develop scleroderma 7 to 12 times more often than men.
Because of female predominance at these and all ages, scientists suspect that
hormonal differences between women and men play a part in the disease. However,
the role of estrogen or other female hormones has not been proven.
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:
- Localized forms of scleroderma are more common in people of European
descent than in African Americans. Morphea usually appears between the ages of
20 and 40, and linear scleroderma usually occurs in children or teenagers.
- Systemic scleroderma, whether limited or diffuse, typically occurs in
people from 30 to 50 years old. It affects more women of African American than
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 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 (a lung specialist), or a
rheumatologist (a doctor specializing in treatment of musculoskeletal disorders
and 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:
- changed skin appearance and texture, including swollen fingers and hands
and tight skin around the hands, face, mouth, or elsewhere
- calcium deposits developing under the skin
- changes in the tiny blood vessels (capillaries) at the base of the
- thickened skin patches.
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:
- Antitopoisomerase-1 or Anti-Scl-70 antibodies appear in the blood of up to
30 percent of people with diffuse systemic sclerosis.
- Anticentromere antibodies are found in the blood of as many as 50 percent
of people with limited systemic sclerosis.
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.
Some patients have some symptoms related to scleroderma and may fit into one
of the following groups:
- Undifferentiated connective tissue disease
(UCTD): This is a term for patients who have some signs and
symptoms of various related diseases, but not enough symptoms of any one
disease to make a definitive diagnosis. In other words, their condition hasn’t
“differentiated” into a particular connective tissue disease. In time, UCTD
can go in one of three directions: it can change into a systemic disease such
as systemic sclerosis, systemic lupus erythematosus, or rheumatoid arthritis;
it can remain undifferentiated; or it can improve spontaneously.
- Overlap syndromes: This is a disease combination
in which patients have symptoms and lab findings characteristic of two or more
What Other Conditions Can Look Like Scleroderma?
A number of other diseases have symptoms similar to those seen in
scleroderma. Here are some of the most common scleroderma “look-alikes.”
Eosinophilic fasciitis (EF) (EE-oh-SIN-oh-FIL-ik
fa-shi-EYE-tis): This disease involves the fascia (FA-shuh), the
thin connective tissue around the muscles, particularly those of the forearms,
arms, legs, and trunk. EF causes the muscles to become encased in collagen, the
fibrous protein that makes up tissue such as the skin and tendons. Permanent
shortening of the muscles and tendons, called contractures, may develop,
sometimes causing disfigurement and problems with joint motion and function. EF
may begin after hard physical exertion. The disease usually fades away after
several years, but people sometimes have relapses. Although the upper layers of
the skin are not thickened in EF, the thickened fascia may cause the skin to
look somewhat like the tight, hard skin of scleroderma. A skin biopsy easily
distinguishes between the two diseases.
Skin thickening on the fingers and hands: This also
appears with diabetes, mycosis fungoides, amyloidosis, and adult celiac disease.
It can also result from hand trauma.
Generalized scleroderma-like skin thickening: This
may occur with scleromyxedema, graft-versus-host disease, porphyria cutanea
tarda, and human adjuvant disease.
Internal organ damage: Similar to that seen in
systemic sclerosis, this may instead be related to primary pulmonary
hypertension, idiopathic pulmonary fibrosis, or collagenous colitis.
Raynaud’s phenomenon: This condition also appears
with atherosclerosis or systemic lupus erythematosus or in the absence of
An explanation of most of these other diseases is beyond the scope of this
booklet. What’s important to understand, however, is that diagnosing scleroderma
isn’t always easy, and it may take time for you and your doctor to do this.
While having a definite diagnosis may be helpful, you do not need to know the
precise form of your disease 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 doctor specializing in treatment of
musculoskeletal disorders and rheumatic diseases). Your rheumatologist may refer
you to other specialists, depending on the specific problems you are having. For
example, you may see 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 such as 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 doctor. Others are things you can do on your
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 percent of
people with scleroderma have this condition, in which the fingers and sometimes
other extremities change color in response to cold temperature or anxiety. For
many, Raynaud’s phenomenon precedes other manifestations of the disease. In
other people, however, Raynaud’s phenomenon is unrelated to scleroderma, but may
signal damage to the blood vessels supplying the hands arising from occupational
injuries (from using jackhammers, for example), trauma, excessive smoking,
circulatory problems, 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.
If you have Raynaud’s phenomenon, 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, which governs various body processes that are not
normally thought of as being under conscious control, and relaxation
- 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.
- If Raynaud’s phenomenon 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.
Stiff, painful joints: In diffuse systemic
sclerosis, hand joints can stiffen due to hardened skin around the joints or
inflammation within them. Other joints can also become stiff and swollen.
- Stretching exercises under the direction of a physical or occupational
therapist are extremely important to prevent loss of joint motion. These
should be started as soon as scleroderma is diagnosed.
- 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
- 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, try the following:
- Apply oil-based creams and lotions frequently, and always right after
- Apply sunscreen before you venture outdoors to protect against further
damage from 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. Otherwise, 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
prescription medications such as pilocarpine hydrochloride (Salagen) or
cevimeline hydrochloride (Evoxac) – 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
- Eat small, frequent meals.
- To keep stomach contents from backing up into the esophagus, stand or sit
for at least an hour (preferably 2 or 3 hours) after eating. When it is time
to sleep, keep the head of your bed raised using blocks.
- Avoid late-night meals, spicy or fatty foods, alcohol, and caffeine, which
can aggravate GI distress.
- Eat moist, soft foods, and chew them well. 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, which can be a cause of diarrhea in some
people with systemic sclerosis.
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:
- 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), or with newer medications that are
prescribed specifically for treating pulmonary hypertension.
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:
- 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: 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
percent 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:
- Check your blood pressure regularly. You should also check it if you have
any new or different symptoms such as a headache or shortness of breath. If
your blood pressure is higher than usual, call your doctor right away.
- If you have kidney problems, take your prescribed medications faithfully.
In the past two decades, drugs known as ACE (angiotensin-converting enzyme)
inhibitors, including captopril (Capoten), enalapril (Vasotec), and
lisinopril, have made scleroderma-related kidney failure a less threatening
problem than it used to be. But for these drugs to work, you must take them as
soon as the hypertension is present.
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
- The appearance of telangiectasias – small red spots on the hands and face
caused by swelling of tiny blood vessels beneath the skin – may be reduced 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.)
* 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.
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
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
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.
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.
- 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; or when you’re depressed. Also, look for a scleroderma support group
in your community by calling a national scleroderma organization. (See
More Information”.) 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
- 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 specific 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 ask about, and early treatment for any
problem can make the disease more manageable.
- Don’t accept depression: Although it’s
understandable that a person with a chronic illness such as 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: Meditation, calming
exercises, and relaxation techniques may help you cope with emotional
difficulties and 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 for
understanding the disease, which is an important step toward prevention and
Leading the way in funding for this research is the National Institute of
Arthritis and Musculoskeletal and Skin Diseases (NIAMS), a part of the U.S.
Department of Health and Human Services’ 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
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.
Some recent advances in the understanding or treatment of scleroderma include
- A gene associated with scleroderma has been found in Oklahoma Choctaw
Native Americans. Scientists believe that the gene, which codes for a protein
called fibrillin-1, may put people at risk for the disease. Current studies
are using new technology to look for other genes associated with the disease’s
development and severity.
- The drug cyclophosphamide (Cytoxan) has been found effective in treating
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. Further research is assessing the impact of
cyclophosphamide on quality of life in people with lung involvement.
- ACE inhibitors are used increasingly 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 the people who continue
ACE inhibitors while on dialysis may be able to go off dialysis in 12 to 18
- Several new and exciting drugs are now available to treat pulmonary
hypertension. Previously, pulmonary hypertension was associated with a poor
outcome, but medications such as prostacyclins, endothelin-receptor
antagonists, and phosphodiesterase inhibitors – epoprostenol sodium (Flolan),
bosentan (Tracleer), and sildenafil (Revatio) – have increased the quality of
life and life expectancy for people with this dangerous form of lung damage.
Other studies are examining the following:
- The theory that scleroderma is a more aggressive disease associated with
more internal organ damage and a worse prognosis in non-Caucasians.
Researchers believe that although factors related to both genetics and
socioeconomic status may play a role, autoantibodies may be the primary reason
that African Americans have such severe disease. A current study is examining
that theory. Researchers hope that by better understanding the factors
involved in scleroderma, they can design interventions that would improve the
course and outcome of the disease.
- The use of ultraviolet-B (UV-B) light to treat the skin manifestations of
localized scleroderma. Exposure to UV light has been shown to reduce collagen
(which is overproduced in people with scleroderma) in the skin by inducing
enzymes that break down collagen and by inhibiting the production of new
- 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 a way to control the problem.
- Studies have shown that certain chemicals called cytokines, made from
cells in the body, enhance the development of increased collagen. New agents
that counteract these cytokines may be helpful in preventing skin thickening.
- 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. Scientists are also working to establish mouse models
for other problems related to scleroderma. These models will make it easier to
understand these problems and develop treatments for them.
Scleroderma research continues to advance as scientists and doctors learn
more about how the disease develops and its underlying mechanisms. NIAMS funds a
research center specializing in scleroderma at the University of Texas Health
Science Center at Houston. Scientists there are conducting laboratory and
clinical research on the disease with the goal of translating 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 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.
For More Information
National Institute of Arthritis and Musculoskeletal and Skin Diseases
National Institutes of Health
1 AMS Circle
Bethesda, MD 20892-3675
Toll Free: 877-22-NIAMS (226-4267)
NIAMS provides information about various forms of arthritis and other
rheumatic diseases, as well as other bone, muscle, joint, and skin diseases.
It distributes patient and professional education materials and refers people
to other sources of information. Additional information and updates can be
found on the NIAMS Web site.
American Academy of Dermatology (AAD)
P.O. Box 4014
Schaumberg, IL 60618-4014
Toll Free: 866-503-SKIN (7546)
This national professional association for dermatologists publishes a
pamphlet on skin conditions and provides referrals to doctors.
American College of Rheumatology (ACR)
1800 Century Place, Suite 250
The American College of Rheumatology is an organization of doctors and
associated health professionals who specialize in arthritis and related
diseases of the bones, joints, and muscles. The Association of Rheumatology
Health Professionals, a division of ACR, aims to enhance the knowledge and
skills of rheumatology health professionals and to promote their involvement
in rheumatology research, education, and quality patient care. The association
also works to advance and promote basic and continuing education in
rheumatology for health professionals who provide care to people with
300 Rosewood Drive, Suite 105
Danvers, MA 01923
Toll Free: 800-722-HOPE (4673)
This voluntary organization publishes information and funds research on
scleroderma. It also offers patient education seminars, support groups, doctor
referrals, and information hotlines.
Scleroderma Research Foundation
220 Montgomery Street, Suite 1411
Toll Free: 800-441-CURE
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 and its need for a cure in the public eye. The foundation distributes
patient handbooks and a twice-yearly, research-related newsletter.
P.O. Box 7669
Atlanta, GA 30357-0669
Toll Free: 800-283-7800
The Arthritis Foundation is devoted to supporting arthritis research and
providing educational and other services to individuals with arthritis. The
foundation publishes a free pamphlet on rheumatoid arthritis and a magazine
for members on all types of arthritis. It also provides up-to-date information
on research, treatment, nutrition, alternative therapies, and self-management
strategies. Chapters nationwide offer exercise programs, classes, support
groups, doctor referrals, and free literature. The foundation also has free
information about lupus, scleroderma, and other autoimmune and rheumatic
conditions on its Web site.
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 to diagnose some diseases, including some forms
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
Autoimmune disease – a disease in which the body’s immune
system turns against and damages its own tissues.
Calcinosis – the formation of calcium deposits in the
connective tissues, which can be detected by x ray. These deposits 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.
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
Collagen – a fabric-like material of fibrous threads that is
a key component of the body’s connective tissues. In scleroderma, either 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 – 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 and lower esophagus, the
result can be swallowing difficulties. In the lower esophagus, the result can be
chronic heartburn or inflammation.
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, which are found in the marrow or blood, attack tissues
in the body into which they were transplanted.
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 condition in which the small blood
vessels of the hands 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.
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 – 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.
Systemic condition – a condition involving the body as a
whole, as opposed to limited conditions that affect particular parts of the
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 – a condition caused by the swelling of tiny
blood vessels, in which small red spots appear on the hands and face. Although
not painful, these red spots can create cosmetic problems.
NIAMS gratefully acknowledges the assistance of Reva Lawrence, M.P.H.,
Barbara Mittleman, M.D., Alan Moshell, M.D., and Susana Serrate-Sztein, M.D.,
NIAMS, NIH; Stanley Pillemer, M.D., National Institute of Dental and
Craniofacial Research, NIH; Philip Clements, M.D., University of California at
Los Angeles; Vincent Falanga, M.D., Boston University; E. Carwile LeRoy, M.D.,
Medical University of South Carolina, Charleston; Morris Reichlin, 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, Danvers,
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 U.S. Department of Health and Human
Services’ 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 research progress in these
diseases. The NIAMS Information Clearinghouse is a public service sponsored by
the Institute that provides health information and information sources.
Additional information can be found on the NIAMS Web site at
For Your Information
This publication contains information about medications used to treat the
health condition discussed here. When this booklet was printed, we included the
most up-to-date (accurate) information available. Occasionally, new information
on medication is released.
For updates and for any questions about any medications you are taking,
please contact the U.S. Food and Drug Administration at:
U.S. Food and Drug Administration
Toll Free: 888-INFO-FDA (888-463-6332)
For updates and questions about statistics, please contact the Centers for
Disease Control and Prevention's National Center for Health Statistics at:
Centers for Disease Control and Prevention’s National Center for Health
Toll Free: 800–232–4636
This booklet is not copyrighted. Readers are encouraged to duplicate and
distribute as many copies as needed.
Additional copies of this booklet are available from:
National Institute of Arthritis and Musculoskeletal and Skin Diseases
National Institutes of Health
1 AMS Circle
Bethesda, MD 20892-3675
Toll Free: 877-22-NIAMS (226-4267)
NIH Publication No. 06-4271
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