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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.
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.
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.
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.
To read the rest of this article (including information
on how it can affect your life and treatment options) from
the National Institute of Arthritis and Musculoskeletal and
Skin Diseases Information Clearinghouse, please click here: http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp
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