What is Scleroderma?

Scleroderma is a disease that involves the abnormal growth of connective tissue which supports the skin and internal organs.  It literally means hard skin as it was derived from the Greek words "sklerosis," for hardness and "derma," for skin. 

In some forms of scleroderma, hard, tight skin is all that occurs.  In other forms, however, the problem goes much deeper, affecting blood vessels and internal organs, such as the heart, lungs, and kidneys.

Scleroderma is unique in that it can be referred to as both a rheumatic disease and a connective tissue disease.  The rheumatic part refers to the conditions characterized by inflammation and/or pain in the muscles, joints, or fibrous tissue.  The connective tissue part refers to the affects it has on the skin, tendons, and bones.

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000.  They list Scleroderma as a "rare disease" because scleroderma currently affects approximately 300,000 people in the United States.  Incidence rates estimated at 2-20 per million per year. 

Scleroderma affects women three times more often than men overall, but increases to a rate 15 times greater for women during childbearing years.  Peak onset occurs in individuals aged 30-50 years.

At the present time, there is no cure for scleroderma.  Approximately 30% of patients with scleroderma die within 5 years of onset, but there are still many treatments available.  Some are directed at particular symptoms like heartburn, which can be controlled by medications called proton pump inhibitors while others are directed at decreasing the activity of the immune system.  Because there is so much variation from one person to another there is great variation in the treatments prescribed.

That is why it is always important to consult with a medical professional if you feel you may be at risk for any disease.  Depending on your particular symptoms, a diagnosis of scleroderma may be made by a general internist, a dermatologist, an orthopaedist, a pulmonologist, or a rheumatologist.

Some important questions you will need to answer are:

What has happened to you over time regarding your symptoms?

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?

Symptoms your doctor will be looking for:

Changed skin appearance and texture including

swollen fingers and/or hands

tight skin around the hands, face, or mouth 

Calcium deposits developing under the skin

Changes in the tiny blood vessels (capillaries) at the base of the fingernails

Thickened skin patches

Finally, your doctor may order lab tests to help confirm a suspected diagnosis. At least two proteins, called antibodies, are commonly found in the blood of people with scleroderma:

Antitopoisomerase-1 or Anti-Scl-70 antibodies appear in the blood of up to 40 percent of people with diffuse systemic sclerosis.

Anticentromere antibodies are found in the blood of as many as 90 percent of people with limited systemic sclerosis.

Just note that not all people with scleroderma have these antibodies and not all people with the antibodies have scleroderma so 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.

Diagnosing scleroderma is easiest when a person has typical symptoms and rapid skin thickening.  In other cases, a diagnosis may take months, or even years, as the disease unfolds and reveals itself.  In some cases, a diagnosis is never made, because the symptoms that prompted the visit to the doctor go away on their own.

Finally, you are ultimately responsible for your health so keeping asking questions until you get answers.

“The... patient should be made to understand that he or she must take charge of his own life.  Don't take your body to the doctor as if he were a repair shop.”