Under the skin

Under the skin – Scleroderma

Peta Gillyatt

In June 1752 a 17-year-old girl was admitted to the Royal Hospital in Naples. Her skin had hardened and tightened all over her body and she could barely open her mouth or bend her neck. Her physician, Carlo Curzio, prescribed warm milk, vapor baths, bleedings from the foot, and small doses of quicksilver. After 11 months of treatment, her skin softened and her flexibility returned. In 1753 Dr. Curzio published a detailed account of her illness, which is thought to be one of the first descriptions of the disease now called scleroderma.

Scleroderma affects an estimated 250,000 people in the United States. They typical patient is a woman in her 30s or 40s whose hands and feet were abnormally sensitive to cold for many years before thickened skin devellped on her hands and face. Although researchers don’t know why, this condition afflicts three times as many women as men and is more common among african-Americans than Casucasians. When men get it, they are apt to have a severe form.

Scleroderma literally means hard (sclera) skin (derma). The disease typically begins between the ages of 30 and 60 as a thickening and hardening of the skin, intially on the fingers, hands, or face. Sweat glands and hair follicles are greatly diminished in the affected area. Thickening occurs because collagen, the protein that gives normal skin its strength and elasticity, is overproduced. When collagen proliferates elsewhere, it can disrupt the workings of the gastrointestinal tract, lungs, kidney, and heart.

Scleroderma is an especially burdensome disorder that can affect almost any organ and, unfortunately, has no cure. Its protean nature drives some patients from one specialist to another, causing them to lament that there is no group of doctors that specialize in this disease.

The name game

There are several types of systemic scleroderma that can spread beyond the skin. In limited scleroderma, which makes up an estimated 45% of cases, skin thickening is confined to the face, fingers and hands (sclerodactyly). In some cases the condition of the skin spontaneously improves and involvement of internal organs is delayed for many years.

The most serious form is diffuse scleroderma, which accounts for an estimated 40% of all cases. Here the thickening often spreads from the fingers and hand to the face, trunk, or major organs. Life-threatening complications of the kidneys, lungs, or heart may result. If internal organs are not affected within the firts two and a half years after diagnosis, patients can breathe easier: their condition is probably stable and life expectancy near normal. About 5% of cases comprise scleroderma sine scleroderma, which affects internal organs but does not cause visible skin thickening. About 10% of people with scleroderma also have another autoimmune or connective tissue disorder sucha as rheumatoid arthritis or lupus erythematosis.

When scleroderma strikes in childhood, it is likely to be one of two rare, localized forms affecting skin, underlying tissue, and muscle but not internal organs.

Waiting for a sign

Systemic scleroderma is usually preceded by Raynaud’s phenomenon (see Harvard Health Letter, January 1992), a painful condition that constricts the flow of blood to the hands and feet. Low temperatures or emotional stress can cause fingers and toes to suddenly turn white and blue, then become cool to the touch and numbe. Fortunately, most people with Raynaud’s phenomenon, a relatively common condition, do not develolp scleroderma.

Researchers suspect that blood vessel damage precedes the collagen proliferation in scleroderma. Capillaries are obliterated in some parts of the body and grow into reddened, freckle-like areas in others. People with limited scleroderma also may have a history of chilly fingers and toes. Another harbinger of the disease is swollen fingers, hands, face, and feet.

When physicians suspect scleroderma, they may use several diagnostic tests to distinguish it from other connective tissue disorders. These tests include skin biopsy, widefold-nail capillaroscopy (examination of the blood vessels in the nailbed under a microscope), and the antinuclear antibody test. If these tests indicate scleroderma, patient and doctor may need to wait for several months to see what form the disease takes. In severe cases the skin usually gets noticeably thicker in a matter of months.

After the diagnosis is made, additional tests may be used to determine the disease’s severity. One antibody test can predict some cases of limited scleroderma, while another can pinpoint almost half of those who will develop diffuse scleroderma.

A little knowledge

Newly diagnosed people may know little or nothing about the disease, and become alarmed by what they read in medical texts. “They get scared to death and don’t know anyone who has it,” said Lynn Rasmussen, president of the Scleroderma Federation of the Tri-State Area (New York, New Jersey, and Connecticut). “It’s a very lonely and frightening time. Talking to other people with scleroderma can be very helpful.” Fortunately, several organizations can help patients contact one another, organize support groups, and learn more about the disease. (See note below article).

In some parts of the country it is difficult to find appropriate care. “Scleroderma patients have a hard time finding someone who is truly expert in their disease because it is so uncommon,” said rheumatologist at Robert Wood Johnson Medical School in New Brunswick, N.J. Although a rheumatologist is a good choice to coordinate care, some people prefer to stay with their family doctor. Others who wre diagnosed at a university medical center may decide to return there for treatment. And those with diffuse and severe disease sometimes see a long list of specialists including dermatologists, gastroenterologists, pulmonologists, cardiologists, plastic surgeons, and physical or occupational therapists.

The skinside inside

Both limited and diffuse scleroderma can produce gastrointestinal discomfort when the proliferation of fibrous tissue hampers the action of smooth muscle that lines the esophagus, small intestine, and colon. Acid-suppressing agents are almost always needed to guard the esophagus against reflux damage. Doctors may also recommend drugs to strengthen bowel action or low doses of antibiotics to combat infections that can produce diarrhea, bowel obstruction, or difficulty absorbing nutrients.

When sclerotic changes occur in the kidneys, blood pressure can soar and the kidneys may fail. Thus it is essential for scleroderma patients to have their blood pressure and urine checked at regular intervals. Fortunatley, angiotensin-converting enzyme (ACE) inhibitors and other drugs that control blood pressure can often stabilize, and sometimes even reverse kidney damage.

Respiratory problems eventually strike at least two-thirds of people with scleroderma, as collagen build-up and blood vessel scarring makes the lungs less flexible and recuces their supply of blood. Many people with scleroderma are short of breath after exercise, and some are vulnerable to pneumonia. Doctors recommend an annual influenza vaccination and prompt antibiotic treatment when respiratory infections occur.

Although fibrous tissue can build up in the heart muscle and pericardium, the fibrous sac that lines the heart, cardiac complications are rare in scleroderma patients. Still, impaired circulation can lead to ulcers on the fingertips, elbows, and ankles — lesions that can usually be managed with proper hygiene and topical antibiotics.

Some people, especially those with limited scleroderma, will develop calcinosis, painful deposits of calcium that may break through the skin and become infected. Antibiotic treatment is necessary when this occurs.

More than half of those with scleroderma experience pain, swelling, and stiffness of the fingers and knees that resembles rheumatoid arthritis. Non-steroidal antiinflammatory drugs can relieve these aches and pains. Physical and occupational therapy are also useful in maintaining hand function.

Throught thick and thin

Although doctors have abandoned bloodletting and doses of mercury, they have not found a drug that can reliably slow teh course of scleroderma or protect the heart, kidneys, and other major organs from damage. Although some studies indicate that the drug penicillamine helps reduce skin thickening and prevents internal complications, many researchers believe the results are inconclusive. They are hoping for better answers from a two-year penicillamine trial currently underway involving 140 patients. Some doctors, however, have reservations about the drug, since high doses can cause side effects including rashies, vascular inflammation, and immune system disorders. Thus doctors usually prescribe the drug in low doses.

New therapies for scleroderma are being explored by 30 U.S. medical centers that make up the Scleroderma Clinical Trials Consortium. They are conducting numerous studies testing the efficacy of high-tech treatments and new drugs. “If there is one thing I would recommend for the person with early scleroderma, it is to get into a clinical trial,” said Dr. Seibold. People who want to volunteer should talk to their doctor or contact a scleroderma support group.

Until a sure-fire therapy is developed, people with limited scleroderma may be better off with little or no intervention. “The worst mistake made in the care of scleroderma is overtreatment,” said Dr. Seibold. Instead of trying to treat the disease itself, it is often better to manage specific symptoms.

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