TZPSS Articles | Health | Scleroderma, Causes,Treatments

Health

TZPSS
science

Topics Front Page

Knowledge has power.

Scleroderma

MEDICAL NOTES

What Is Scleroderma?
"Sklerosis" means hardness, and "derma" meanins skin. Scleroderma
literally means hard skin. Scleroderma is a symptom of a group of
diseases that involve the abnormal growth of connective tissue, which
supports the skin and internal organs. 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 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 tissues
such as skin, tendons, and cartilage.

What Are the Different Types of Scleroderma?
Scleroderma have two main classes: [1] localized scleroderma and [2]
systemic sclerosis. Localized Scleroderma has two subgroups: Morphea
and Linear scleroderma. Systemic Scleroderma has three subgroups:
Limited, Diffuse, and Sine.

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. There are two generally
recognized types of localized scleroderma:

Morphea: Morphea 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. Some people have both morphea and linear
scleroderma.

Linear scleroderma: The disease is characterized by 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.

Systemic Scleroderma (also known as Systemic Sclerosis)
This form of the disease also involves the tissues beneath, the blood
vessels, and the major organs.

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.

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 and lower esophagus, the result can be swallowing
difficulties. In the lower esophagus, the result can be 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.

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. While 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, it 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 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,
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 organs.

People with diffuse scleroderma face the most serious long-term outlook
if they develop severe kidney, lung, digestive, or heart problems.
Fortunately, less than onethird of patients with diffuse disease develop
these severe problems. Early diagnosis and continual and careful
monitoring are important.

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
affected.

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.

Environmental triggers: Research suggests that exposure to some
environmental factors may trigger sclerodermalike 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 (ages 30 to 55)
women develop scleroderma 7 to 12 times more often than men.
Because of female predominance at this 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?
Localized forms of scleroderma are more common in people of
European Americans. Morphea usually appears between the ages of 20
and 40, and linear scleroderma usually occurs in children or teenagers.

Systemic scleroderma typically occurs in people from 30 to 50 years old.
It affects more women of African American than European descent.

Estimates for the number of people in the United States with systemic
sclerosis range from 40,000 to 165,000. A survey including all
scleroderma-related disorders suggested a number between 250,000
and 992,500.

How Is Scleroderma Diagnosed?
A diagnosis of scleroderma is based largely on the medical history and
findings from the physical exam. Finding one or more of the following
factors can help the doctor diagnose a certain form of scleroderma: 1.
changed skin appearance and texture, including swollen fingers and
hands and tight skin around the hands, face, mouth, or elsewhere 2.
calcium deposits developing under the skin
3. changes in the tiny blood vessels (capillaries) at the base of the
fingernails 4. thickened skin patches.

Lab tests include:
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.
Skin biopsy (the surgical removal of a small sample of skin for
microscopic examination) to aid in or help confirm a diagnosis. .

Diagnosing scleroderma is easiest when a person has typical symptoms
and rapid skin thickening.

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
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): This disease involves the fascia, 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.

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
underlying disease.

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. Your
rheumatologist may refer you to other specialists, depending on the
specific problems you are having.

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.

Here is a listing of the potential problems that can occur in systemic
scleroderma and the medical and nonmedical treatments for them.

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, 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.

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
exercises.

Medications For severe cases, your doctor may prescribe drugs called
calcium channel blockers, such as nifedipine (Procardia*), which can
open up small blood vessels and improve circulation. 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.

Use nonsteroidal anti-inflammatory drug, as recommended by your
doctor, to help relieve joint or muscle pain.

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 therapist are
important to prevent loss of joint motion.

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.

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.

Apply sunscreen before you venture outdoors.

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: 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.

Have regular dental checkups..

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.

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, or intestinal complaints
such as diarrhea, constipation, and gas.

Eat small, frequent meals.

To keep stomach contents from backing up into the esophagus, stand
or sit for at least an hour (preferably two or three) 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.

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: Virtually all people with systemic sclerosis have some
loss of lung function: 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):

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. While, 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. 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.

Get regular flu and pneumonia vaccines.

Heart problems: Common among people with scleroderma, heart
problems include 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: 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.

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), or
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
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
reduced or even eliminated with the use of guided lasers.

How Can Scleroderma Affect My Life?
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: special cosmetics and in some cases,
plastic surgery can help conceal scleroderma's damage.

Caring for yourself: 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, and hold a job the way you
used to. 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. 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. Discuss with your doctor about pregnancy
and childbearing.

How Can I Play a Role in My Health Care?
Seek support from family members, friends, and coworkers to build a
support network. Contact the associations listed at the end of this article
for detailed information.

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 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
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 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.

Some recent advances
A gene associated with scleroderma has been found in Oklahoma
Choctaw Native Americans.

The drug cyclophosphamide (Cytoxan) has been found effective in
treating lung fibrosis.

ACE inhibitors are used increasingly for scleroderma-related kidney
problems including scleroderma-related kidney failure.

Several new and exciting drugs are now available to treat pulmonary
hypertension including prostacyclins, endothelin-receptor antagonists,
and phosphodiesterase inhibitors (Flolan, Tracleer and Revatio).

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 while 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.

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 collagen.

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.

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.

More Questions? Count on More Answers For More Information

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
National Institutes of Health 1 AMS Circle Bethesda, MD 20892 3675 Phone:
301�495�4484 TTY: 301-565-2966 Fax: 301-718-6366

American Academy of Dermatology P.O. Box 4014 Schaumburg, IL 60168�4014
Phone: 888-462-DERM (3376) (free of charge) Fax: 847-240-1859

American College of Rheumatology 1800 Century Place, Suite 250
Atlanta, GA 30345 Phone: 404-633-3777 Fax: 404-633-1870

Scleroderma Foundation 300 Rosewood Drive, Suite 105 Danvers, MA 01923
Phone: 978�463�5843 or 800�722�HOPE (4673) (free of charge) Fax: 978-463-
5809

Scleroderma Research Foundation 220 Montgomery Street, Suite 1411 San
Francisco, CA 94104 Phone: 415-834-9444 Fax: 415-834-9177

Arthritis Foundation P.O. Box 7669 Atlanta, GA 30357�0669 Phone: 404-872-7100

Credit Handout on Health: Scleroderma NIAMS Revised July 2006