Health Topics
Publication Date: July 2001
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:
Localized Scleroderma
Localized types of
scleroderma are those limited to the skin and related tissues and, in
some cases, the muscle below. Internal organs are not affected by localized
scleroderma, and localized scleroderma can never progress to the systemic
form of the disease. Often, localized conditions improve or go away
on their own over time, but the skin changes and damage that occur when
the disease is active can be permanent. For some people, localized scleroderma
is serious and disabling.
There are two generally recognized types of localized
scleroderma:
Morphea: Morphea (mor-FEE-ah) comes from a Greek
word that means "form" or "structure." The word refers to local patches
of scleroderma. The first signs of the disease are reddish patches of
skin that thicken into firm, oval-shaped areas. The center of each patch
becomes ivory colored with violet borders. These patches sweat very
little and have little hair growth. Patches appear most often on the
chest, stomach, and back. Sometimes they appear on the face, arms, and
legs.
Morphea can be either localized or generalized. Localized
morphea limits itself to one or several patches, ranging in size
from a half-inch to 12 inches in diameter. The condition sometimes appears
on areas treated by radiation therapy. Some people have both morphea
and linear scleroderma (described below). The disease is referred to
as generalized morphea when the skin patches become very hard
and dark and spread over larger areas of the body.
Regardless of the type, morphea generally fades out in
3 to 5 years; however, people are often left with darkened skin patches
and, in rare cases, muscle weakness.
Linear scleroderma: As suggested by its name, the
disease has a single line or band of thickened and/or abnormally colored
skin. Usually, the line runs down an arm or leg, but in some people
it runs down the forehead. People sometimes use the French term en
coup de sabre, or "sword stroke," to describe this highly visible
line.
Systemic Scleroderma (also known as Systemic Sclerosis)
Systemic scleroderma, or systemic sclerosis, is the term
for the disease that not only includes the skin, but also involves the
tissues beneath to the blood vessels and major organs. Systemic sclerosis
is typically broken down into diffuse and limited disease.
People with systemic sclerosis often have all or some of the symptoms
that some doctors call CREST, which stands for the following:
- 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.
Limited scleroderma: Limited scleroderma typically
comes on gradually and affects the skin only in certain areas: the fingers,
hands, face, lower arms, and legs. Many people with limited disease
have Raynaud's phenomenon for years before skin thickening starts. Others
start out with skin problems over much of the body, which improves over
time, leaving only the face and hands with tight, thickened skin. Telangiectasias
and calcinosis often follow. Because of the predominance of CREST in
people with limited disease, some doctors refer to limited disease as
the CREST syndrome.
Diffuse scleroderma: Diffuse scleroderma typically
comes on suddenly. Skin thickening occurs quickly and over much of the
body, affecting the hands, face, upper arms, upper legs, chest, and
stomach in a symmetrical fashion (for example, if one arm or one side
of the trunk is affected, the other is also affected). Some people may
have more area of their skin affected than others. Internally, it can
damage key organs such as the heart, lungs, and kidneys.
People with diffuse disease are often tired, lose appetite
and weight, and have joint swelling and/or pain. Skin changes can cause
the skin to swell, appear shiny, and feel tight and itchy.
The damage of diffuse scleroderma typically occurs over
a few years. After the first 3 to 5 years, people with diffuse disease
often enter a stable phase lasting for varying lengths of time. During
this phase, skin thickness and appearance stay about the same. Damage
to internal organs progresses little, if at all. Symptoms also subside:
joint pain eases, fatigue lessens, and appetite returns.
Gradually, however, the skin starts to change again. Less
collagen is made and the body seems to get rid of the excess collagen.
This process, called "softening," tends to occur in reverse order of
the thickening process: the last areas thickened are the first to begin
softening. Some patients' skin returns to a somewhat normal state, while
other patients are left with thin, fragile skin without hair or sweat
glands. More serious damage to heart, lungs, or kidneys is unlikely
to occur unless previous damage leads to more advanced deterioration.
People with diffuse scleroderma face the most serious
long-term outlook if they develop severe kidney, lung, digestive, or
heart problems. Fortunately, less than one-third of patients with diffuse
disease develop these problems. Early diagnosis and continual and careful
monitoring are important.
Sine scleroderma: Some doctors break systemic sclerosis
down into a third subset called systemic sclerosis sine (SEEN-ay, Latin
for "without") scleroderma. Sine may resemble either limited or diffuse
systemic sclerosis, causing changes in the lungs, kidneys, and blood
vessels. However, there is one key difference between sine and other
forms of systemic sclerosis: it does not affect the skin.
What Causes Scleroderma?
Although scientists don't know exactly what causes scleroderma,
they are certain that people cannot catch it from or transmit it to
others. Studies of twins suggest it is also not inherited. Scientists
suspect that scleroderma comes from several factors that may include:
Abnormal immune or inflammatory activity: Like
many other rheumatic disorders, scleroderma is believed to be an autoimmune
disease. An autoimmune disease is one in which the immune system, for
unknown reasons, turns against one's own body.
In scleroderma, the immune system is thought to stimulate
cells called fibroblasts to produce too much collagen. In scleroderma,
collagen forms thick connective tissue that builds up around the cells
of the skin and internal organs. In milder forms, the effects of this
buildup are limited to the skin and blood vessels. In more serious forms,
it also can interfere with normal functioning of skin, blood vessels,
joints, and internal organs.
Genetic makeup: While genes seem to put certain
people at risk for scleroderma and play a role in its course, the disease
is not passed from parent to child like some genetic diseases.
However, some research suggests that having children may
increase a woman's risk of scleroderma. Scientists have learned that
when a woman is pregnant, cells from her baby can pass through the placenta,
enter her blood stream, and linger in her body--in some cases, for many
years after the child's birth. Recently, scientists have found fetal
cells from pregnancies of years past in the skin lesions of some women
with scleroderma. They think that these cells, which are different from
the woman's own cells, may either begin an immune reaction to the woman's
own tissues or trigger a response by the woman's immune system to rid
her body of those cells. Either way, the woman's healthy tissues may
be damaged in the process. Further studies are needed to find out if
fetal cells play a role in the disease.
Environmental triggers: Research suggests that
exposure to some environmental factors may trigger the disease in people
who are genetically predisposed to it. Suspected triggers include viral
infections, certain adhesive and coating materials, and organic solvents
such as vinyl chloride or trichloroethylene. In the past, some people
believed that silicone breast implants might have been a factor in developing
connective tissue diseases such as scleroderma. But several studies
have not shown evidence of a connection.
Hormones: By the middle to late childbearing years
(ages 30 to 55), women develop scleroderma at a rate 7 to 12 times higher
than men. Because of female predominance at this and all ages, scientists
suspect that something distinctly feminine, such as the hormone estrogen,
plays a role in the disease. So far, the role of estrogen or other female
hormones has not been proven.
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.
- 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 European descent.
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.
Appearance and self-esteem: Aside from the initial
concerns about health and longevity, one of the first fears people with
scleroderma have is how the disease will affect their appearance. Thick,
hardened skin can be difficult to accept, particularly on the face.
Systemic scleroderma may result in facial changes that eventually cause
the opening to the mouth to become smaller and the upper lip to virtually
disappear. Linear scleroderma may leave its mark on the forehead. Although
these problems can't always be prevented, their effects may be minimized
with proper treatment and skin care. Special cosmetics--and in some
cases, plastic surgery--can help conceal scleroderma's damage.
Caring for yourself: Tight,
hard connective tissue in the hands can make it difficult to do what
were once simple tasks, such as brushing your teeth and hair, pouring
a cup of coffee, using a knife and fork, unlocking a door, or buttoning
a jacket. If you have trouble using your hands, consult an occupational
therapist, who can recommend new ways of doing things or devices to
make tasks easier. Devices as simple as Velcro* fasteners and built-up
brush handles can help you be more independent.
* Brand names included in this booklet are provided
as examples only, and their inclusion does not mean that these products
are endorsed by the National Institutes of Health or any other Government
agency. Also, if a particular brand name is not mentioned, this does
not mean or imply that the product is unsatisfactory.
Family relationships: Spouses, children, parents,
and siblings may have trouble understanding why you don't have the energy
to keep house, drive to soccer practice, prepare meals, and hold a job
the way you used to. If your condition isn't that visible, they may
even suggest you are just being lazy. On the other hand, they may be
overly concerned and eager to help you, not allowing you to do the things
you are able to do or giving up their own interests and activities to
be with you. It's important to learn as much about your form of the
disease as you can and share any information you have with your family.
Involving them in counseling or a support group may also help them better
understand the disease and how they can help you.
Sexual relations: Sexual relationships can be affected
when systemic scleroderma enters the picture. For men, the disease's
effects on the blood vessels can lead to problems achieving an erection.
In women, damage to the moisture-producing glands can cause vaginal
dryness that makes intercourse painful. People of either sex may find
they have difficulty moving the way they once did. They may be self-conscious
about their appearance or afraid that their sexual partner will no longer
find them attractive. With communication between partners, good medical
care, and perhaps counseling, many of these changes can be overcome
or at least worked around.
Pregnancy and childbearing: In the past, women
with systemic scleroderma were often advised not to have children. But
thanks to better medical treatments and a better understanding of the
disease itself, that advice is changing. (Pregnancy, for example, is
not likely to be a problem for women with localized scleroderma.) Although
blood vessel involvement in the placenta may cause babies of women with
systemic scleroderma to be born early, many women with the disease can
have safe pregnancies and healthy babies if they follow some precautions.
One of the most important pieces of advice is to wait
a few years after the disease starts before attempting a pregnancy.
During the first 3 years you are at the highest risk of developing severe
problems of the heart, lungs, or kidneys that could be harmful to you
and your unborn baby.
If you haven't developed organ problems within 3 years
of the disease's onset, chances are you won't, and pregnancy should
be safe. But it is important to have both your disease and your pregnancy
monitored regularly. You'll probably need to stay in close touch with
the doctor you typically see for your scleroderma as well as an obstetrician
experienced in guiding high-risk pregnancies.
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:
- 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
fingernails.
- 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 40 percent of people with diffuse systemic sclerosis.
- Anticentromere antibodies are found in the blood of as many as 90
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.
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:
- Eosinophilic fasciitis (EF) (EE-oh-SIN-oh-FIL-ik fa-shi-EYE-tis):
a disease that 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.
- Undifferentiated connective tissue disease (UCTD): a diagnosis
for patients who have some signs and symptoms of various related diseases,
but not enough symptoms of any one disease to make a definite 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: a disease combination in which patients
have symptoms and lab findings characteristic of two or more conditions.
At other times, symptoms resembling those of scleroderma
can be the result of an unrelated disease or condition. For example:
- Skin thickening on the fingers and hands also appears with
diabetes, mycosis fungoides, amyloidosis, and adult celiac disease.
It can also result from hand trauma.
- Generalized skin thickening 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,
may instead be related to primary pulmonary hypertension, idiopathic
pulmonary fibrosis, or collagenous colitis.
- Raynaud's phenomenon also appears with atherosclerosis or
systemic lupus erythematosus or in the absence of underlying disease.
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: 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.
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:
- Check your blood pressure regularly and, if you find it to be high,
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 quinapril (Accupril), have made scleroderma-related kidney failure
a less-threatening problem than it was in the past. But for these
drugs to work, you must take them.
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.)
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
2320 Bath Street, Suite 315
Santa Barbara, CA 93105
(800) 441-CURE (2873) (free of charge) or (805) 563-9133
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 and its need for a cure in the public eye.
The foundation distributes patient handbooks and a twice yearly, research-related
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.