Scleroderma, a Rheumatic Disease and a Connective Tissue Disease

Derived from the Greek words “sklerosis,” meaning hardness, and “derma,” meaning skin, scleroderma literally means hard skin.  Though it is often referred to as if it were a single disease, scleroderma is really a symptom of a group of diseases that involve the abnormal growth of connective tissue, which supports the skin and internal organs.  It is sometimes used, therefore, as an umbrella term for these disorders.  In some forms of scleroderma, hard, tight skin is the extent of this abnormal process.  In other forms, however, the problem goes much deeper, affecting blood vessels and internal organs, such as the heart, lungs, and kidneys.  
 
Scleroderma is called both a rheumatic disease and a connective tissue disease.  The term rheumatic disease refers to a group of conditions characterized by inflammation and/or pain in the muscles, joints, or fibrous tissue. A connective tissue disease is one that affects the major substances in the skin, tendons, and bones. 
 
Although scientists don’t know exactly what causes scleroderma, they are certain that people cannot catch it from or transmit it to others.  Studies of twins suggest it is also not inherited.  Scientists suspect that scleroderma comes from several factors that may include:
 
Abnormal immune or inflammatory activity:  Like many other rheumatic disorders, scleroderma is believed to be an autoimmune disease.  An autoimmune disease is one in which the immune system, for unknown reasons, turns against one’s own body.  In scleroderma, the immune system is thought to stimulate cells called fibroblasts to produce too much collagen.  In scleroderma, collagen forms thick connective tissue that builds up around the cells of the skin and internal organs.  In milder forms, the effects of this buildup are limited to the skin and blood vessels.  In more serious forms, it also can interfere with normal functioning of skin, blood vessels, joints, and internal organs.
 
Genetic makeup:  While genes seem to put certain people at risk for scleroderma and play a role in its course, the disease is not passed from parent to child like some genetic diseases.  However, some research suggests that having children may increase a woman’s risk of scleroderma.  Scientists have learned that when a woman is pregnant, cells from her baby can pass through the placenta, enter her blood stream, and linger in her—in some cases, for may years after the child’s birth.  Recently, scientists have found fetal cells from pregnancies of years past in the skin lesions of some women with scleroderma.  They think that these calls, which are different from the woman’s own cells, may either begin an immune reaction to the woman’s own tissues or trigger a response by the woman’s immune system to rid her body of those cells.  Either way, the woman’s healthy tissues may be damaged in the process.  Further studies are needed to find out if fetal cells play a role in the disease.
 
Environmental triggers:  Research suggests that exposure to some environmental factors may trigger the disease in people who are genetically predisposed to it.  Suspected triggers include viral infections, certain adhesive and coating materials, and organic solvents such as vinyl chloride or trichloroethylene.  In the past, some people believed that silicone breast implants might have been a factor in developing connective tissue diseases such as scleroderma.  But several studies have not shown evidence of a connection.
 
Hormones:  By the middle to late childbearing years (ages 30 to 55), women develop scleroderma at a rate 7 to 12 times higher than men.  Because of female predominance at this and all ages, scientists suspect that something distinctly feminine, such as the hormone estrogen, plays a role in the disease.  So far, the role of estrogen or other female hormones has not been proven.
 
Although scleroderma is more common in women, the disease also occurs in men and children.  If affects people of all races and ethnic groups.  However, there are some patterns by disease type.  For example:
 
Localized forms of scleroderma are more common in people of European descent than in African Americans.
Morphea usually appears between the ages of 20 and 40.
Linear scleroderma usually occurs in children or teenagers.
Systemic scleroderma, whether limited or diffuse, typically occurs in people from 30 to 50 hears old.  It affects more women of African American than European descent.
 
For some people, scleroderma (particularly the localized forms) is fairly mild and resolves with time.  Bur for others, living with the disease and its effects day to day has a significant impact on their quality of life.
 
A diagnosis of scleroderma is based largely on the medical history and findings from the physical exam.  To make a diagnosis, your doctor will ask you a lot of questions about what has happened to you over time and about any symptoms you may be experiencing.  Are you having a problem with heartburn or swallowing?  Are you often tired or achy?  Do your hands turn white in response to anxiety or cold temperatures?
 
Once your doctor has taken a thorough medical history, he or she will perform a physical exam.  Following that your doctor may order lab tests to help confirm a suspected diagnosis.  At least two proteins, Antitpoisomerase-1 or Anti-Scl-70 antibodies and Anticentromere antibodies, are commonly found in the blood of people with scleroderma.  Because not all people with scleroderma have these antibodies and because not all people with the antibodies have scleroderma, lab test results alone cannot confirm the diagnosis.
 
In some cases, your doctor may order a skin biopsy to aid in or help confirm a diagnosis.  However, skin biopsies, too, have their limitations:  biopsy results cannot distinguish between localized and systemic disease, for example.
 
One of the most common problems associated with scleroderma, Raynaud’s phenomenon, can be uncomfortable and can l ead to painful skin ulcers on the fingertips.  More than 70 percent of people with scleroderma first notice this problem when their fingers turn cold or blue, typically in response to cold temperatures or emotional distress.  Raynaud's phenomenon, as the condition is called may precede scleroderma by years.  In many people, however, Raynaud’s phenomenon is unrelated to scleroderma, but may signal damage to the blood vessels supplying the hands arising from such conditions as occupational injuries (from using jackhammers, for example), trauma, excessive smoking, circulatory problems, and drug use or exposure to toxic substances.  For some people, cold fingers (and toes) are the extent of the problem and are little more than a nuisance.  For others, the condition can worsen and lead to puffy fingers, finger ulcers, and other complications that require aggressive treatment.  Smoking makes the condition worse. 
 
 The following measures may make you more comfortable and help prevent problems:
 
Don’t smoke!  Smoking narrows the blood vessels even more and makes Raynaud’s phenomenon worse.
Dress warmly, with special attention to hands and feet.  Dress in layers and try to stay indoors during cold weather.
Use biofeedback (to control various body processes that are not normally thought of as being under conscious control) and relaxation exercises.
For severe cases, speak to your doctor about prescribing drugs called calcium channel blockers, such as nifedipine (Procardia),  which can open up small blood vessels and improve circulation.  Other drugs are in development and may become available in the future.
If Raynaud’s leads to skin sores or ulcers, increasing your dose of calcium channel blockers (under the direction of your doctor ONLY) may help.  You can also protect skin ulcers from further injury or infection by applying nitroglycerine paste or antibiotic cream.  Severe ulcerations on the fingertips can be treated with bioengineered skin.
 
Currently, there is no treatment that controls or stops the underlying problem—the overproduction of collagen—in all forms of scleroderma.  Thus, treatment and management focus on relieving symptoms and limiting damage.  Your treatment will depend on the particular problems you are having.  No one can say for sure when—or if—a cure will be found.   But research is providing the next best thing:  better ways to treat symptoms, prevent organ damage, and improve the quality of life for people with scleroderma.  In the past two decades, multidisciplinary research has also provided new clues to understanding the disease, which is an important step toward prevention or cure.  And although your doctors direct your treatment, you are the one who must take your medicine regularly, follow your doctor’s advice, and report any problems promptly.  In other words, the relationship between you and your doctors is a partnership, and you are the most important partner.