Scleroderma
What is it?
Scleroderma is a chronic, progressive disease
that causes the skin and connective tissue to
thicken and become tight and hard. Connective
tissue is found throughout the body, providing
support to the skin, internal organs, blood
vessels, and nerves. Scleroderma also commonly
affects the muscles that aid in swallowing.
Scleroderma is described as systemic sclerosis
when it affects the body's internal organs and
blood vessels as well as the skin. The word
sclerosis means "hardening." Chronic means the
disease lasts for a long period of time or recurs.
Progressive means it gets worse over time.
Who gets it?
Scleroderma is usually diagnosed between the
ages of 30 and 50. Although it affects people of
all races, it is four times more common in women
than men. Higher incidences of scleroderma are
found in Choctaw Native Americans and
Afro-American women. Some cases of scleroderma
have been reported in people who have been exposed
to certain toxins, such as silica dust, epoxy
resins, benzine, toluene, and polyvinyl chloride.
This disease can run in families.
What causes it?
The cause of scleroderma is not known, but
symptoms are related to too much collagen in the
body. Collagen is a fibrous protein found in bone,
cartilage, tendon, and other connective tissue. In
some cases, however, researchers believe that
scleroderma occurs because somehow the blood
vessels become damaged and are then unable to
deliver enough oxygen to the body's tissues. The
immune system responds by releasing immune cells,
called antibodies, which usually attack and kill
bacteria, viruses, and fungi. However, in this
case, something causes the immune system to see
the body's own tissues as foreign invaders, which
the antibodies damage and destroy. The damaged
tissues become inflamed, swollen, and eventually
hardened and scarred. A high incidence of
scleroderma in people exposed to silica dust,
found in coal and gold mines, may indicated a link
between scleroderma and certain toxins.
What are the symptoms?
Scleroderma can be limited, meaning it affects
only the skin and swallowing muscles, or
widespread (systemic sclerosis), affecting
internal organs and blood vessels. In some
patients, scleroderma affects only the fingers,
called sclerodactyly, and in others it affects
large areas of skin. In mild cases, the symptoms
progress slowly. With systemic sclerosis, symptoms
may appear suddenly, or progress slowly. In most
cases, the first symptoms usually involve
thickening and swelling at the ends of the
fingers. A condition called Raynaud's phenomenon
is also common. With this condition, the fingers
are extremely sensitive to the cold, becoming pale
and tingly, then blue as they warm up. These
symptoms can also occur under stress. Raynaud's
phenomenon can affect the toes, ears, and nose as
well. As scleroderma progresses, the skin becomes
swollen, tight, and shiny in the affected areas.
It may be difficult to smile or change expression,
giving the face a mask-like appearance. When the
area around the mouth is affected, it may make
eating or dental hygiene difficult.
Eventually, the skin can become so tight that
it leads to deformity. Damage to the tissues of
the skin also damage the structures that produce
oil, hair, and sweat, so the skin becomes dry.
Patients also have problems with dryness of the
eyes and mouth. Joints, such as those around the
elbows and wrists, become painful to move. Tiny
spider veins (telangiectasia) often develop over
the face, chest, fingers, and even the lips and
tongue, and bumpy calcium deposits (calcinosis)
appear under the skin. Because the tissues are not
receiving enough oxygen, ulcers may appear on the
skin, increasing the risk for infection and
gangrene (tissue death).
Additional symptoms vary according to which
organs or systems of the body are affected. For
example, a scarred esophagus, which connects the
mouth and stomach, makes it difficult to swallow
food. It causes heartburn because acid from the
stomach is allowed to flow up into the esophagus.
This is called esophageal reflux, and further
irritates the esophagus. If the intestines become
damaged, the patient may be unable to absorb
enough nutrients from the food he or she eats,
causing weight loss, diarrhea, and anemia. Because
the intestines have difficulty processing food,
the patient feels bloated and uncomfortable. More
than half of all patients with scleroderma will
experience shortness of breath because the chest
skin is so tight, or the lungs are scarred.
Scarring in the lungs also produces coughing and
an increased risk of pneumonia and cancer.
Scleroderma can cause enlargement of the heart;
abnormal heart rhythms; inflammation of the lining
of the heart, called pericarditis; and heart
failure. It can also cause severe kidney disease,
usually indicated by a sudden rise in blood
pressure, called hypertension. If scar tissue
blocks the drainage system from the liver,
patients have symptoms ranging from jaundice to an
enlarged liver. Males with sceleroderma may have
difficulty achieving or sustaining an erection.
Some patients have a group of symptoms called
CREST. This stands for calcinosis, Raynaud's
phenomenon, esophageal dysfunction, sclerodactyly,
and telangiectasia. The survival rate for
scleroderma depends upon how widespread it is.
Patients with the best prognosis have scleroderma
limited to the skin. Patients with CREST also have
a fairly good prognosis.
How is it diagnosed?
To diagnose scleroderma, your doctor will take
a complete medical history and perform a thorough
physical exam. Because the symptoms are so
distinctive, a diagnosis is usually based upon the
characteristic changes in the skin. However,
because scleroderma has some symptoms similar to
other connective tissue diseases, your doctor will
want to rule out any other possible conditions. He
or she may order a skin biopsy, where a small
sample of the affected skin is removed for
examination under a microscope. Your doctor may
also order blood tests to look for antibodies that
show the body might be fighting its own tissues,
signs of anemia or other red blood cell disorders,
and signs of kidney dysfunction. Special x-rays
can show difficulties with swallowing, and other
tests may be performed to check the condition of
major organs, such as the heart, lung, liver, and
kidneys.
What is the treatment?
While there is no treatment that will stop the
progression of scleroderma, there are drugs that
can relieve the symptoms and even help prevent
organ damage. Which treatment is used depends upon
the symptoms. To treat Raynaud's phenomenon,
doctor's recommend dressing warmly in cold weather
and avoiding stress. Medications used to treat
severe Raynaud's phenomenon include ointments and
oral drugs, all of which can help improve
circulation. Steroid drugs, such as
corticosteroids, may be prescribed for short
periods of time to reduce inflammation. Drugs
called immunosuppressants are effective in some
patients because they slow down the immune
system's production of antibodies. However,
steroids and immunosuppressants can cause severe
side effects and must be taken under close medical
supervision. Dry skin can be moisturized with
special ointments and creams. Patients with
scleroderma must have their blood pressure
carefully monitored for signs of kidney damage.
Treatment with antihypertensive drugs is very
effective in treating kidney disease caused by
scleroderma.
Other treatments include antibiotics for skin
ulcers that become infected, medications to
relieve heartburn, antidiuretics for fluid around
the heart, and exercise and massage to improve
movement. Patients with esophageal reflux are
advised to eat small meals several times a day and
to avoid spicy foods and foods containing
caffeine. Researchers have found that a drug
called D-penicillamine slows the rate that the
skin thickens by interfering with defective
collagen. For this reason, penicillamine can also
slow down any progression of the disease to the
body's internal organs. Again, this drug has
possible side effects that your doctor should
discuss with you. Other treatments under study
include light therapy and bone marrow transplants.
Self-care tips
At this time, there is no known cure for
scleroderma, nor any way to prevent the disease.
People can, however, avoid exposure to toxins that
have been linked to the disease. If you or someone
you know has been diagnosed with scleroderma,
learn all you can about the disease and its
progression. Follow your doctor's recommendations
for treatment and keep abreast of any new research
being conducted on scleroderma.
This information has been designed as a comprehensive and quick reference
guide written by our health care reviewers. The health information written
by our authors is intended to be a supplement to the care provided by your
physician. It is not intended nor implied to be a substitute for
professional medical advice.
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