scleroderma

Scleroderma

Definition

Scleroderma is a progressive disease that affects the skin and connective tissue (including cartilage, bone, fat, and the tissue that supports the nerves and blood vessels throughout the body). There are two major forms of the disorder. The type known as localized scleroderma mainly affects the skin. Systemic scleroderma, which is also called systemic sclerosis, affects the smaller blood vessels and internal organs of the body.

Description

Scleroderma is an autoimmune disorder, which means that the body's immune system turns against itself. In scleroderma, there is an overproduction of abnormal collagen (a type of protein fiber present in connective tissue). This collagen accumulates throughout the body, causing hardening (sclerosis), scarring (fibrosis), and other damage. The damage may affect the appearance of the skin, or it may involve only the internal organs. The symptoms and severity of scleroderma vary from person to person.Scleroderma occurs in all races of people all over the world, but it affects about four females for every male. Among children, localized scleroderma is more common, and systemic sclerosis is comparatively rare. Most patients with systemic sclerosis are diagnosed between ages 30 and 50. In the United States, about 300,000 people have scleroderma. Young African-American women and Native Americans of the Choctaw tribe have especially high rates of the disease. In 2003, researchers reported that they had identified 12 different genetic markers associated with scleroderma in the Choctaw population.

Causes and symptoms

The cause of scleroderma is still a puzzle. Although the accumulation of collagen appears to be a hallmark of the disease, researchers do not know why it occurs. Some theories suggest that damage to blood vessels may cause the tissues of the body to receive an inadequate amount of oxygen—a condition called ischemia. Some researchers believe that the resulting damage causes the immune system to overreact, producing an autoimmune disorder. According to this theory of scleroderma, the immune system gears up to fight an invader, but no invader is actually present. Cells in the immune system called antibodies react to the body's own tissues as if they were foreign. The antibodies turn against the already damaged blood vessels and 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 have no recognizable triggering event. Some cases, however, have been traced to exposure to toxic (poisonous) substances. For example, coal miners and gold miners, who are exposed to high levels of silica dust, have above-average rates of scleroderma. Other chemicals associated with the disease include polyvinyl chloride, benzine, toluene, and epoxy resins. In 1981, 20,000 people in Spain were stricken with a syndrome similar to scleroderma when their cooking oil was accidentally contaminated. Certain medications, especially a drug used in cancer treatment called bleomycin (Blenoxane), may lead to scleroderma. Some claims of a scleroderma-like illness have been made by women with silicone breast implants, but a link has not been proven in numerous studies.

Symptoms of systemic scleroderma

A condition called Raynaud's phenomenon is the first symptom in about 95% of all patients with systemic scleroderma. In Raynaud's phenomenon, the blood vessels of the fingers and/or toes (the digits) react to cold in an abnormal way. The vessels clamp down, preventing blood flow to the tip of the digit. Eventually, the flow is cut off to the entire finger or toe. Over time, oxygen deprivation may result in open ulcers on the skin surface. These ulcers can lead to tissue death (gangrene) and loss of the digit. When Raynaud's phenomenon is the first sign of scleroderma, the next symptoms usually appear within two years.SKIN AND EXTREMITIES. Involvement of the skin leads to swelling underneath the skin of the hands, feet, legs, arms, and face. Swelling is followed by thickening and tightening of the skin, which becomes taut and shiny. Severe tightening may lead to abnormalities. For example, tightening of the skin on the hands may cause the fingers to become permanently curled (flexed). Structures within the skin are damaged (including those producing hair, oil, and sweat), and the skin becomes dry and scaly. Ulcers may form, with the danger of infection. Calcium deposits often appear under the skin.In systemic scleroderma, the mouth and nose may become smaller as the skin on the face tightens. The small mouth may interfere with eating and dental hygiene. Blood vessels under the skin may become enlarged and show through the skin, appearing as purplish marks or red spots. This chronic dilation of the small blood vessels is called telangiectasis.Muscle weakness, joint pain and stiffness, and carpal tunnel syndrome are common in scleroderma. Carpal tunnel syndrome involves scarring in the wrist, which puts pressure on the median nerve running through that area. Pressure on the nerve causes numbness, tingling, and weakness in some of the fingers.DIGESTIVE TRACT. The tube leading from the mouth to the stomach (the esophagus) becomes stiff and scarred. Patients may have trouble swallowing food. The acid contents of the stomach may start to flow backward into the esophagus (esophageal reflux), causing a very uncomfortable condition known as heartburn. The esophagus may also become inflamed.The intestine becomes sluggish in processing food, causing bloating and pain. Foods are not digested properly, resulting in diarrhea, weight loss, and anemia. Telangiectasis in the stomach or intestine may cause rupture and bleeding.RESPIRATORY AND CIRCULATORY SYSTEMS. The lungs are affected in about 66% of all people with systemic scleroderma. Complications include shortness of breath, coughing, difficulty breathing due to tightening of the tissue around the chest, inflammation of the air sacs in the lungs (alveolitis), increased risk of pneumonia, and an increased risk of cancer. For these reasons, lung disease is the most likely cause of death associated with scleroderma.The lining around the heart (pericardium) may become inflamed. The heart may have greater difficulty pumping blood effectively (heart failure). Irregular heart rhythms and enlargement of the heart also occur in scleroderma.Kidney disease is another common complication. Damage to blood vessels in the kidneys often causes a major rise in the person's blood pressure. The blood pressure may be so high that there is swelling of the brain, causing severe headaches, 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 and go into failure. Treatments for high blood pressure have greatly improved these kidney complications. Before these treatments were available, kidney problems were the most common cause of death for people with scleroderma.Other problems associated with scleroderma include painful dryness of the eyes and mouth, enlargement and destruction of the liver, and a low-functioning thyroid gland.

Diagnosis

Diagnosis of scleroderma is complicated by the fact that some of its symptoms can accompany other connective-tissue diseases. The most important symptom is thickened or hardened skin on the fingers, hands, forearms, or face. This symptom is found in 98% of people with scleroderma. It can be detected in the course of a physical examination. The person's medical history may also contain important clues, such as exposure to toxic substances on the job. There are a number of nonspecific laboratory tests on blood samples that may indicate the presence of an inflammatory disorder (but not specifically scleroderma). The antinuclear antibody (ANA) test is positive in more than 95% of people with scleroderma.Other tests can be performed to evaluate the extent of the disease. These include a test of the electrical system of the heart (an electrocardiogram), lung-function tests, and x-ray studies of the gastrointestinal tract. Various blood tests can be given to study kidney function.

Treatment

Mainstream treatments

As of early 2004 there is no cure for scleroderma. A drug called D-penicillamine has been used to interfere with the abnormal 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. Taking vitamin D and using ultraviolet light may be helpful for localized scleroderma. One group of British researchers reported in 2003 that long-wavelength ultraviolet A light is particularly effective in treating localized scleroderma. Corticosteroids have been used to treat joint pain, muscle cramps, and other symptoms of inflammation. Other drugs have been studied that reduce the activity of the immune system (immunosuppressants). Because these medications can have serious side effects, they are used in only the most severe cases of scleroderma.The various complications of scleroderma are treated individually. Raynaud's phenomenon requires that people try to keep their hands and feet warm constantly. Nifedipine is a medication that is sometimes given to help control Raynaud's. Thick ointments and creams are used to treat dry skin. Exercise and massage may help joint involvement; they may also help people retain more movement despite skin tightening. An exercise regimen for stretching the mouth opening has been reported to be a helpful alternative to surgery in managing this condition. Skin ulcers need prompt attention and may require antibiotics. People with esophageal reflux will be advised to eat small amounts more often, rather than several large meals a day. They should also avoid spicy foods and items containing caffeine. Some patients with esophageal reflux have been successfully treated with surgery. Acid-reducing medications may be given for heartburn. People must be monitored for the development of high blood pressure. If found, they should be promptly treated with appropriate medications, usually ACE inhibitors or other vasodilators. When fluid accumulates due to heart failure, diuretics can be given to get rid of the excess fluid.Patients with scleroderma may also benefit from some form of counseling or psychotherapy, as they are at increased risk of depression. One study found that 46% of the patients in its sample met the criteria for a depressive disorder.

Alternative treatments

One alternative therapy that some naturopaths have used in treating patients with scleroderma is superoxide dismutase (SOD), an antioxidant enzyme used in its injectable form. More research, however, needs to be done on the benefits of this treatment.

Prognosis

The prognosis for people with scleroderma varies. Some have a very limited form of the disease called morphea, which affects only the skin. These individuals have a very good prognosis. Other people have a subtype of systemic scleroderma called limited scleroderma. For them, the prognosis is relatively good. Limited scleroderma is characterized by limited involvement of the patient's skin and a cluster of five symptoms called the CREST syndrome. CREST stands for:

C = Calcinosis
R = Raynaud's disease (phenomenon)
E = Esophageal dysmotility (stiffness and malfunctioning of the esophagus)
S = Sclerodactyly (thick, hard, rigid skin over the fingers)
T = Telangiectasias

In general, people with very widespread skin involvement have the worst prognosis. This level of disease is usually accompanied by involvement of other organs and the most severe complications. Although women are more commonly stricken with scleroderma, men more often die of the disease. The two factors that negatively affect survival are male sex and older age at diagnosis. The most common causes of death include heart, kidney, and lung diseases. About 65% of all patients survive 11 years or more following a diagnosis of scleroderma.As of early 2004 there are no known ways to prevent scleroderma. People can try to decrease occupational exposure to high-risk substances.

Key terms

Autoimmune disorder — A disorder in which the body's immune cells mistake the body's own tissues as foreign invaders; the immune cells then work to destroy tissues in the body.Collagen — The main supportive protein of cartilage, connective tissue, tendon, skin, and bone.Connective tissue — A group of tissues responsible for support throughout the body; includes cartilage, bone, fat, tissue underlying skin, and tissues that support organs, blood vessels, and nerves throughout the body.Fibrosis — The abnormal development of fibrous tissue; scarring.Limited scleroderma — A subtype of systemic scleroderma with limited skin involvement. It is somestimes called the CREST form of scleroderma, after the initials of its five major symptoms.Localized scleroderma — Thickening of the skin from overproduction of collagen.Morphea — The most common form of localized scleroderma.Raynaud phenomenon/Raynaud disease — A condition in which blood flow to the body's tissues is reduced by a malfunction of the nerves that regulate the constriction of blood vessels. When attacks of Raynaud's occur in the absence of other medical conditions, it is called Raynaud disease. When attacks occur as part of a disease (as in scleroderma), it is called Raynaud phenomenon.Sclerosis — Hardening.Systemic sclerosis — A rare disorder that causes thickening and scarring of multiple organ systems.Telangiectasias — Very small arteriovenous malformations, or connections between the arteries and veins. The result is small red spots on the skin known as "spider veins."

Resources

Books

Beers, Mark H., MD, and Robert Berkow, MD., editors. "Systemic Sclerosis." The Merck Manual of Diagnosis and Therapy. Whitehouse Station, NJ: Merck Research Laboratories, 2004.Pelletier, Dr. Kenneth R. The Best Alternative Medicine, Part II: CAM Therapies for Specific Conditions: Scleroderma. New York: Simon and Schuster, 2002.

Periodicals

Dawe, R. S. "Ultraviolet A1 Phototherapy." British Journal of Dermatology 148 (April 2003): 626-637.Hill, C. L., A. M. Nguyen, D. Roder, and P. Roberts-Thomson. "Risk of Cancer in Patients with Scleroderma: A Population Based Cohort Study." Annals of the Rheumatic Diseases 62 (August 2003): 728-731.Matsuura, E., A. Ohta, F. Kanegae, et al. "Frequency and Analysis of Factors Closely Associated with the Development of Depressive Symptoms in Patients with Scleroderma." Journal of Rheumatology 30 (August 2003): 1782-1787.Mayes, M. D., J. V. Lacey, Jr., J. Beebe-Dimmer, et al. "Prevalence, Incidence, Survival, and Disease Characteristics of Systemic Sclerosis in a Large US Population." Arthritis and Rheumatism 48 (August 2003): 2246-2255.Pizzo, G., G. A. Scardina, and P. Messina. "Effects of a Nonsurgical Exercise Program on the Decreased Mouth Opening in Patients with Systemic Scleroderma." Clinical Oral Investigations 7 (September 2003): 175-178.Zhou, X., F. K. Tan, N. Wang, et al. "Genome-Wide Association Study for Regions of Systemic Sclerosis Susceptibility in a Choctaw Indian Population with High Disease Prevalence." Arthritis and Rheumatism 48 (September 2003): 2585-2592.

Organizations

American College of Rheumatology. 60 Executive Park South, Suite 150, Atlanta, GA 30329. (404) 633-3777. http://www.rheumatology.org.National Organization for Rare Disorders, Inc. (NORD). 55 Kenosia Avenue, P. O. Box 1968, Danbury, CT 06813. (800) 999-6673 or (203) 744-0100. http://www.rarediseases.org.Scleroderma Foundation. 12 Kent Way, Suite 101, Byfield, MA 01922. (978) 463-5843 or (800) 722-HOPE. Fax: (978) 463-5809. http://www.scleroderma.org.

scleroderma

[skle″ro-der´mah] chronic hardening and shrinking of the connective tissues of any organ of the body, including the skin, heart, esophagus, kidney, or lung. The skin may be thickened, hard, and rigid, and pigmented patches may occur. The two main types are systemic scleroderma and localized scleroderma. The milder forms are most often seen in women between the ages of 30 and 50; the more severe forms usually affect men, blacks, and older persons. The cause of scleroderma is not known. Current theories suggest three possibilities: an immunological reaction in which the skin attracts lymph cells which stimulate the production of collagen, hereditary factors related to abnormal serum proteins and antinuclear factors, and occupational exposure to silica dust.

Because the symptoms of scleroderma often mimic those of other diseases such as bursitis, osteoarthritis, rheumatoid arthritis, and other collagen disorders, it is difficult to diagnose. There is no test specific for confirmation of a diagnosis of scleroderma, but x-rays, skin biopsies, and tests for antinuclear antibodies, gamma globulin, sedimentation rate, and latex fixation can provide evidence that the disease is present.Treatment. Treatment includes drugs such as penicillamine, immunosuppressives, and antiinflammatory agents. Ulcers that form on the knuckles, elbows, and other bony prominences as a result of calcium deposits are treated topically with ointments. Physiotherapy to restore and maintain musculoskeletal function as much as possible is indicated for certain patients. For others, diet therapy and small frequent feedings can help relieve the problems of malabsorption due to intestinal involvement.Patient Care. Patients with scleroderma have especially thick skin that is hard to penetrate with a needle. Injections and venipunctures can be quite painful and should be done with as much care and dispatch as possible. The site of venipuncture for intravenous therapy is monitored frequently, especially for infiltration, which can cause a painful swelling and pressure for weeks. The skin should be protected from irritation that could lead to breakdown and the introduction of infectious agents.

Calcium deposit sites are assessed regularly to note any signs of prolonged pressure, ulceration, or infection. Cool, moist compresses and a topical ointment can help relieve infections when they do develop at these sites. Protection of the respiratory tract includes stopping smoking, avoiding infectious agents, and getting adequate rest. Emotional stress can aggravate the condition; hence patients are taught effective coping strategies and relaxation techniques.
Mouth care and proper brushing and flossing, as well as periodic dental checks, are necessary to prevent cavities and periodontal disease. Patients with scleroderma have great difficulty opening their mouths wide enough to allow dental work to be done. Patients are encouraged to take prescribed medications exactly as ordered and are taught the names of their drugs, their expected action, and when and how to take them, that is, with meals and never with milk products.
Patients and their families can participate better in self-care and management of the illness if they are provided with continued support, either with a group or by a visiting nurse. Additional information about the disease can be obtained by contacting the United Scleroderma Foundation, P.O. Box 399, Watsonville, CA 95077-0399, telephone (800) 722-HOPE.circumscribed scleroderma 1. localized scleroderma.2. morphea.diffuse scleroderma (generalized scleroderma) systemic scleroderma.linear scleroderma localized scleroderma in a bandlike lesion with discoloration of the skin and atrophy of skin, subcutaneous tissue, muscle, and bone. See also coup de sabre" >coup de sabre. Called also linear morphea.localized scleroderma 1. scleroderma confined to the skin and subcutaneous tissue or secondarily involving the musculoskeletal system. It occurs in three forms: morphea" >morphea, scleroderma" >linear scleroderma, and coup de sabre" >coup de sabre. Called also circumscribed scleroderma.2. morphea.systemic scleroderma a systemic disorder of the connective tissue characterized by hardening and thickening of the skin, with telangiectasias, Raynaud's phenomenon, and fibrotic degenerative changes in organs such as the heart, lungs, kidneys, and gastrointestinal tract. It may remain confined to the face and hands for a long time or may spread diffusely to become generalized. Called also diffuse or generalized scleroderma and systemic sclerosis. See also CREST syndrome.

scle·ro·der·ma

(sklē'rō-der'mă), Do not confuse this word with scleredema or sclerema.Thickening and induration of the skin caused by new collagen formation, with atrophy of pilosebaceous follicles; either a manifestation of progressive systemic sclerosis or localized (morphea). See: systemic sclerosis, morphea. Synonym(s): systemic scleroderma, systemic sclerosis (2) [sclero- + G. derma, skin]

scleroderma

(sklîr′ə-dûr′mə)n. A pathological thickening and hardening of the skin.

scleroderma

Progressive systemic sclerosis Dermatology An idiopathic condition characterized by induration of skin due to ↑ collagen deposition Clinical Raynaud's phenomenon followed by arthralgia, arthritis, early–subcutaneous edema, late–skin induration, skin ulcers, pinched face, dyspnea due to lung fibrosis, cor pulmonale Immunology Autoantibodies–eg, anti-nuclear, anti-centromere, anti-topoisomerase 1–Scl-70 antibodies Lab Normochromic, normocytic anemia, microangiopathic anemia, polyclonal gammopathy, ↑ ESR Imaging Osteoporosis, interstitial markings in CXR, ↓ esophageal and colonic peristalsis, irregular narrowing in renal arteriogram Management CCBs for vasodilation in Pts with Raynaud's phenomenon; penicillamine may slow disease progression; preventive measures include avoiding tobacco and cold, antibiotics and digitalis prn Prognosis 5-yr survival, ±40%

scle·ro·der·ma

(sklerō-dĕrmă) Thickening and induration of the skin caused by new collagen formation, with atrophy of pilosebaceous follicles; either a manifestation of progressive systemic sclerosis or localized (morphea).
Synonym(s): dermatosclerosis, systemic scleroderma. [sclero- + G. derma, skin]

scleroderma

A rare AUTOIMMUNE disorder that may affect skin, lungs, heart, arteries, kidneys, joints and the intestines. It often causes thickening and shininess of the skin giving the face a mask-like appearance and causing stiffness of joints. RAYNAUD'S PHENOMENON is common. There may be difficulty in swallowing, breathlessness, palpitations, high blood pressure (HYPERTENSION) and muscle weakness. There is no specific treatment.

scleroderma

Thickening and hardening of the skin due to new collagen formation. It occurs either in localized or in systemic disease. It may very occasionally produce keratoconjunctivitis sicca. Syn. dermatosclerosis.

scle·ro·der·ma

(sklerō-dĕrmă) Thickening and induration of skin caused by new collagen formation, with atrophy of pilosebaceous follicles. [sclero- + G. derma, skin]

Patient discussion about scleroderma

Q. what is scleroderma? A. thank god for "wikipedia" :) -
http://en.wikipedia.org/wiki/Scleroderma

Q. Is anybody treated with Humira for child's scleroderma? A girl, age 14, treated with Humira for scleroderma. Medication is currently not supported by health care services due to lack of pervasive support for clinical results. Before trying Humira, the girl was treated with Omrigam. This did not help, while now with Humira she is finally able to walk again.Humira is expensive. If somebody else is in the "same boat" please replyA. Thanks, I will try

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REFERENCES

scleroderma

Scleroderma

Definition

Description

Causes and symptoms

Symptoms of systemic scleroderma

Diagnosis

Treatment

Mainstream treatments

Alternative treatments

Prognosis

Key terms

Resources

Books

Periodicals

Organizations

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scleroderma

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noun an autoimmune disease that affects the blood vessels and connective tissue

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