Scleroderma
What
is scleroderma?
Scheroderma is an acquired rare disease that occurs worldwide
in sporadic and occasionally in familial cases . Scleroderma is a chronic, often progressive autoimmune
connective tissue disorder in which the body's immune system attacks its
own tissues. It falls into the same category as rheumatoid arthritis,
lupus, Sjögren syndrome (dry mucus membranes) and multiple sclerosis
(MS). It is a highly individualized disease. Its involvement can vary
a great deal in terms of severity. For a few individuals it is merely
a nuisance; for others it is a life-threatening illness. For most, it
is a disease that affects a person's professional, social, and emotional
lives.
What
symptoms are involved?
The disease name "scleroderma" literally means hard (skleros)
+ skin (derma) can cause thickening and tightening of the skin, and in
some cases serious damage to internal organs including lungs, heart, kidneys,
esophagus, and gastrointestinal (GI) tract.
There are two basic types of scleroderma: the systemic from, the localized form. However these forms can overlap with other scleroderma-related disorders.
Systemic scleroderma is further divided into two forms: limited and diffuse, referring to the degree of skin involvement. Both forms are associated with internal organ damage, but the limited form tends to have less severe organ problems.
- Localized scleroderma affects a local area of the skin, and usually internal organs and blood vessels. Localized scleroderma occurs either as patches of thickened skin (morphea), or skin that may extend down an arm or a leg. Longitudial fibrotic bands occur predominantly on extremities and involve skin and deeper tissue. This form is more common in children.
- Scleroderm-related disorders can also occur in patients with other autoimmune disorders, as part of an overlap syndrome. A variety of drugs and chemicals can also produce lesions similar to those seen in scleroderma.
The systemic form affects internal organs or internal systems of the body. The immune system causes damage to two main areas; the small blood vessels, and the collagen-producing cells located in the skin and throughout the body. In systemic scleroderma, the small blood vessels in the fingers tend to narrow, and sometimes the blood channel is completely closed off. As a result, small cuts on the hands are slow to heal, and sometimes ulcers form spontaneously. Due to the decreased blood supply, scleroderma patients are notoriously cold-sensitive. This symptom is called Raynaud's phenomenon (color changes of the fingers upon exposure to cold), which occurs in about 95% of people with the systemic form. The collagen aspect of the disease is responsible for the thick and tight skin, lung, GI and heart problems. Under normal conditions, the immune system signals cells to produce collagen to from a scar after an area of injury or infection has been cleared. In scleroderma, this scar tissue is produced for no apparent reason, and builds up in the skin and the other organs. This form is more common in adults.
Persons with the diffuse form have more extensive skin thickening that involves trunk or upper extremities in addition to the face and distal extremities. There is usually significant involvement of the lungs, heart, gastrointestinal tract, and kidneys.
Persons with the limited form have skin thickening limited to sites distal to the elbow and knee but can also involving face and neck. Late organ involvement includes hypertension, digital ulceration, and possible digital amputation. Limited scleroderma is often referred to as the CREST from. CREST is an acronym for:
Calcinosis
- calcium deposits in skin
Raynaud's phenomenon - color changes in the fingers due to cold exposure
Esophageal dysfunction - acid in the esophagus, felt as heartburn
Sclerodactyly - tight and thick skin of the fingers
Telangiectasia - red spots in the skin
How
common is it?
The prevalence is low and an estimated 300,000 persons in the United states
have scleroderma. Approximately 4 times more women than men develop scleroderma.
The average age of onset is 40. However, scleroderma is a disease with
many exceptions.
What
causes scleroderma?
Although the exact cause or causes of scleroderma are unknown, studies
have provided insight into factors that regulate disease susceptibility
and clinical course. Susceptibility appears to be controlled by a complex
interaction between environmental encounters and genetic and non-genetic
host factors. The clinical course is influenced by genetic factors. It
is also known that the disease process in scleroderma involves an over-production
of collagen.
Most persons with scleroderma do not have any relatives with scleroderma, nor do their children. Research indicates there is a "susceptibility gene" which raises the likelihood of getting scleroderma, but does not cause scleroderma by itself.
How
is scleroderma diagnosed?
An experiences doctor bases a diagnosis of scleroderma primarily on a
patient's medical history, physical examinations and a variety of blood
tests. The physicians who are often involved in the diagnostic process
are: rheumatologists (arthtitis doctors) and dermatologists (skin doctors).
The most common finding is hard skin. About 98% of scleroderma patients
have hardening or thickening of the skin of the fingers, and often of
the hands, forearms, and face. Raynaud's phenomenon is present in 95%
of patients. Over 95% of patients have a positive antinuclear antibody
(ANA) test.
What
treatment are available for scleroderma?
Although medicines can sometimes help treat symptoms, there is no cure
for scleroderma. Many treatments are available for specific symptoms.
Because there is so much variation in the type and severity of symptoms,
it is important that each patient receive individualized care from a doctor
who is knowledgeable about the disease.
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