Scleroderma is a diffuse connective tissue disease characterized
by changes in the skin, blood vessels, skeletal muscles, and internal organs
Causes of Scleroderma
The cause of scleroderma is unknown. The disease may produce
local or systemic
symptoms. The course and severity of the disease varies widely in those affected.
Excess collagen deposits in the skin and other organs produce the symptoms. Damage to
small blood vessels within the skin and affected organs also occurs. In the skin,
ulceration, calcification, and changes in pigmentation may occur.
Systemic features may include fibrosis and degeneration of the heart, lungs, kidneys
and gastrointestinal tract.
The disease usually affects people 30 to 50 years old. Women are affected more often
than men. Risk factors are occupational exposure to silica dust and polyvinyl chloride.
Information about Scleroderma
Connective tissue is found throughout the body. It is a fibrous tissue produced by
special cells called fibroblasts. Many cells of the immune system exist within the
connective tissue. Connective tissue supports all of the structures of the body, including
the skin, the organs, and all of the body's blood vessels and nerves. Collagen is a type
of protein fiber present in connective tissue.
In scleroderma, collagen is over produced and is defective. Collagen then accumulates
throughout the body, causing the hardening (sclerosis), scarring (fibrosis), and the
damage characteristic of scleroderma. Because collagen is found so widely throughout the
body, the effects of scleroderma are almost always widespread.
Scleroderma occurs in all races of people all over the world. Patients are most often
diagnosed between the ages of 30-50 years old. Women are three to four times more likely
to suffer from the disorder. Young Afro-American women and Choctaw Native Americans have
particularly high rates of the disease. Although some cases of scleroderma clearly run in
families, most cases of scleroderma occur without any known family tendency for the
Causes & symptoms
- blanching, blueness, or redness of fingers and toes in response to heat and cold
- pain, stiffness, and swelling of fingers and joints
- skin thickening and shiny hands and forearm
- skin is hard
- tight and mask-like facial skin
- ulcerations on fingertips or toes
- esophageal reflux or heartburn
- difficulty swallowing
- bloating after meals
- weight loss
- shortness of breath
Additional symptoms that may be associated with this disease:
- wrist pain
- skin, abnormally dark or light
- joint pain
- hair loss
- eye burning, itching and discharge
The cause of scleroderma remains puzzling. Although the accumulation of collagen
appears to be a hallmark of the disease, doctors do not know why this happens. Some
theories suggest that damage to blood vessels may occur prior to fibrosis. When blood
vessels are damaged, the tissues of the body receive an inadequate amount of oxygen (a
condition called ischemia). Some researchers believe that tissue ischemia and damage then
causes the immune system to over react, creating an autoimmune disorder. The immune system
is designed to produce cells that fight foreign invaders like bacteria, viruses, and
fungi. In this theory of scleroderma, the immune system gears up to fight an invader, but
no invader is actually present. Cells of the immune system, called antibodies, recognize
the body's own tissues as foreign. The immune system cells turn against the already
damaged blood vessels and then the vessels' supporting tissues. These immune cells are
designed to deliver potent chemicals in order to kill foreign invaders. Some of these
cells dump these chemicals on the body's own tissues instead, causing inflammation,
swelling, damage, and scarring.
Most cases of scleroderma occur with no recognizable initiating event. Some cases,
however, have been traced to poisonous (toxic) exposures. For example, coal miners and
gold miners (both of whom have a lot of exposure to silica dust) have higher than normal
rates of scleroderma. Other types of chemicals that have been associated with scleroderma
include polyvinyl chloride, benzine, toluene, and epoxy resins. In 1981, 20,000 people in
Spain were stricken with a syndrome similar to scleroderma when a toxic substance
accidentally contaminated cooking oil. Some claims of a scleroderma-like illness have been
made by women with silicone breast implants.
About 95% of all patients with scleroderma have a condition called Raynaud's phenomenon
as their first symptom. In Raynaud's disease, the blood vessels of the fingers and/or toes
(the digits) react abnormally to cold. The vessels clamp down, preventing blood flow to
the end of the digit and, eventually, to the entire digit. The affected digit turns white,
then blue, then red when it begins to get blood. Numbness, tingling, and pain are
associated with this entire process. Over time, oxygen deprivation to these tissues may
result in open, irritated pits (ulcers) in the surface of the skin. These ulcers can lead
to tissue death (gangrene) and loss of the digit. These extreme symptoms of Raynaud's
disease rarely occur, except when Raynaud's is associated with other conditions like
scleroderma. When Raynaud's disease leads to scleroderma, the next symptoms are usually
seen within two years of the first sign of Raynaud's.
Involvement of the skin leads to swelling underneath the skin of the hands, feet, legs,
arms, and face. This is followed by thickening and tightening of the skin, which becomes
taut and shiny. When this tightening is severe, it may cause deformity. For example, skin
tightening on the hands may cause the fingers to become permanently curled (flexed), with
no ability to straighten them. Structures within the skin are damaged (including those
producing hair, oil, and sweat), and skin becomes dry and scaly. Ulcers may form, with the
danger of infection. Calcium deposits often appear under the skin (calcinosis).
As the skin grows tight on the face, the mouth and nose become smaller. The small mouth
may interfere with eating and caring for the teeth. Blood vessels under the skin may
become enlarged and obvious through the skin, appearing as purplish marks
Muscle weakness, joint pain and stiffness, and carpal tunnel syndrome are common.
Carpal tunnel syndrome involves scarring in the wrist, which puts pressure on the median
nerve running through that area. This causes numbness, tingling, and weakness of some of
The tube leading from the mouth to the stomach (the esophagus) becomes stiff and
scarred. Patients may experience difficulty swallowing food. The acidic contents of the
stomach may be allowed to flow backwards into the esophagus (esophageal reflux), causing
severe symptoms of heartburn. Inflammation of the esophagus may occur (esophagitis).
The intestine becomes sluggish in processing food, causing bloating and pain. Foods are
improperly processed, resulting in diarrhea, weight loss, and anemia. Telangiectasis
developing in the stomach or intestine may cause rupture and bleeding.
The lungs are affected in about 66% of all patients with scleroderma. Complications
include shortness of breath, coughing, difficulty breathing due to tightening of the
tissue around the chest, inflammation of the air sacs of the lung (alveolitis), increased
chance of pneumonia, and an increased risk of cancer. All of these have made lung disease
the most likely cause of death in scleroderma.
The lining around the heart (pericardium) may become inflamed (pericarditis). The heart
may have an increasing amount of difficulty pumping blood effectively (heart failure).
Irregular heart rhythms and enlargement of the heart also occur in scleroderma.
Kidney disease is a common complication. Damage to blood vessels of the kidneys is
often responsible for a huge spike in blood pressure, called malignant hypertension. The
blood pressure may be so high that the patient suffers from swelling of the brain, with an
extreme headache, damage to the retinas of the eyes, seizures, and failure of the heart to
pump blood into the body's circulatory system. The kidneys may also stop filtering blood
appropriately, leading to kidney failure. Treatments for high blood pressure and these
kidney complications have greatly improved. Prior to these treatments, kidney problems
were the most common cause of death for patients with scleroderma.
Other problems associated with scleroderma include painful dryness of the eyes and
mouth, a low functioning thyroid gland (hypothyroidism), difficulty of male patients to
achieve/sustain an erection of the penis, and enlargement and destruction of the liver.
Diagnosis involves recognizing the relatively unique characteristics of scleroderma
symptoms. However, some of these symptoms can accompany other connective tissue diseases.
Some nonspecific laboratory tests that may indicate an inflammatory disorder (but not
specifically scleroderma) include:
- Elevated results from a special red blood cell test (erythrocyte sedimentation rate)
- Decreased red blood cell count (anemia)
- Positive tests for certain antibodies (including rheumatoid factor, anti-Scl-70
antibodies, anticentromere antibodies, and antinuclear antibodies).
Other tests can be performed to evaluate the extent of the disease. These can include:
- A test that reveals information about the electrical system of the heart (an
- Lung function tests
- X-ray studies of the gastrointestinal tract
- Various blood tests to study kidney functions.
There is no cure for scleroderma. A drug called D-penicillamine has been used to
interfere with the defective collagen. It is believed to help decrease the degree of skin
thickening and tightening, and to slow the progress of the disease in other organs.
Steroid medications have been used to interfere with the inflammatory process in
scleroderma. Other drugs have been studied that reduce the activity of the immune system
(immunosuppressants), including azathioprine, colchicine, interferon, and 5-fluorouracil.
Because they can have serious side effects, these medications are only used for the most
severe cases of scleroderma.
The various complications of scleroderma are treated individually. Raynaud's disease
requires that patients try to keep their hands and feet warm constantly, and avoid
situations where they will be exposed to cold temperatures. Thick ointments and creams are
used to treat dry skin. Exercise and massage may help joint involvement, and may help
patients retain more movement despite skin tightening. Skin ulcers will need prompt
attention and may require antibiotics. Patients with esophageal reflux will be advised to
eat small meals more often. They should also avoid foods that may make the reflux worse,
like spicy foods and caffeine-containing items like coffee, tea, and chocolate.
Medications may be given to treat heartburn. Patients must be monitored for the
development of high blood pressure, and promptly and aggressively treated with appropriate
medications. When fluid accumulates due to heart failure, diuretic medications can be
given to help get rid of the excess fluid.
The prognosis for patients with scleroderma varies. Some patients, in fact, have a very
limited form of the disease and only their skin is affected. This is called morphea. These
patients have a very good prognosis. Other patients with a cluster of symptoms called the
CREST syndrome also have a relatively good prognosis. CREST stands for:
- R=Raynaud's disease
- E=Esophageal dysmotility (stiffness and malfunctioning of the esophagus)
- S=Sclerodactyly (thick, hard, rigid skin over the fingers)
In general, patients with very widespread skin involvement have the worse prognosis.
This level of disease seems to be accompanied by involvement of other organs and the most
severe complications. Although women are more commonly stricken with scleroderma, males
more often die of the disease. The most common causes of death include heart, kidney, and
lung diseases. About 65% of all patients survive 10 years or more following a diagnosis of
There are no known ways to prevent scleroderma. People can try to decrease exposure to
those substances associated with high rates of the disease. These include silica dust,
polyvinyl chloride, benzine, toluene, epoxy resins, and silicone breast implants.
For more information vist Surviving Scleroderma