TUESDAY, June 28, 2005 (HealthDay News) -- It's called scleroderma, a disfiguring disorder that causes the skin and internal organs to harden and tighten.
Yet few people have heard of or know much about it.
But that's not surprising, because medical experts have great gaps in their knowledge of the disease. There's no known cure for scleroderma, and although it's suspected to be an autoimmune disorder, doctors still debate its true cause.
But experts agree on one thing: Scleroderma is a very serious disorder.
"Very often, it leads to a lot of disability and even death," said Dr. John Varga, a professor in the division of rheumatology at the Northwestern University Feinberg School of Medicine.
An estimated 300,000 Americans suffer from scleroderma, and about 10,000 people die annually from systemic sclerosis, the most severe form of the disorder, according to the Scleroderma Research Foundation.
Derived from the Greek words "sklerosis," meaning hardness, and "derma," meaning skin, scleroderma literally means "hard skin," according to the National Institute of Arthritis and Musculoskeletal and Skin Diseases.
Scleroderma occurs when the body's tissues begin producing too much collagen, which forms thick connective tissue that builds up around the cells of the skin and internal organs.
"The scar tissue builds up and chokes off the tissue," Varga said. "The normal tissue becomes replaced by a big scar."
Doctors are unsure what causes the autoimmune reaction. Suspected causes include genetic abnormalities, hormonal levels, or environmental triggers such as viruses or chemical compounds.
In milder forms of scleroderma, the effects of this buildup are limited to the skin and blood vessels, according to the National Institutes of Health. In more serious forms, it also can interfere with normal functioning of skin, blood vessels, joints and internal organs.
As it progresses, the disease can reach deep inside the body, affecting major organs and causing symptoms such as high blood pressure, acid damage to the esophagus, kidney damage and shortness of breath.
The least dangerous forms of scleroderma cause thick, reddish patches of skin that sweat very little and have little hair growth. The patches appear most often on a person's chest, stomach, and back, although they sometimes appear on the face, arms and legs.
But if the disease progresses into systemic sclerosis, patients find their skin rapidly thickening over much of their body, affecting the hands, face, upper arms, upper legs, chest and stomach.
"When that shows up in your face, it's very noticeable," said Charles Spaulding, vice president of the Scleroderma Research Foundation. "Your lips begin to tighten, so your teeth are constantly showing. You can't smile. Many patients have trouble eating, or puckering their lips to use a straw."
Patients with systemic sclerosis suffer from extreme fatigue, joint swelling and pain. The skin can swell, appear shiny, and feel tight and itchy.
They also often have all or some of the symptoms that some doctors call CREST, according to the National Institutes of Health. CREST stands for:
- Calcinosis, or the formation of calcium deposits in the connective tissues. If the deposits break through the skin, painful ulcers can result.
- Raynaud's phenomenon, in which the small blood vessels of the hands or feet contract in response to cold or anxiety, leading to ulcers, scars or gangrene.
- Esophageal dysfunction, occurring when smooth muscles in the esophagus lose normal movement. Symptoms can range from difficulty swallowing to chronic heartburn or inflammation.
- Sclerodactyly, or 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.
- Telangiectasia, or small red spots on the hands and face that are caused by the swelling of tiny blood vessels.
Systemic sclerosis has been known to go into remission. Collagen production reduces, the body gets rid of excess collagen and the skin softens. Some patients' skin returns to a somewhat normal state, while others are left with thin, fragile skin without hair or sweat glands.
However, the disease also can cause severe kidney, lung, digestive or heart problems for as many as one-third of patients with systemic sclerosis.
Doctors treat severe scleroderma mainly by treating the complications it causes, Varga said -- such as an acid-scarred esophagus, hypertension caused by hardened blood vessels, or tight lungs unable to catch a decent breath.
"There's still no disease-modifying treatment," Varga said. "None of them really alter the course of the disease."
There's no medication that directly targets the disease itself. Further complicating matters, each case is different, making it hard for doctors to come up with a standard treatment.
"Everyone is different," Spaulding said. "That's what's so frustrating about this disease, and what makes it so hard to treat. If you and I both have scleroderma, the chances we have the same symptoms are very small."
To learn more visit the Scleroderma Foundation.