A diagnosis of scleroderma is based largely on the medical history and findings from the physical exam. Scleroderma isn't always easy to diagnose; it may take time for you and your doctor to establish a diagnosis. While having a definite diagnosis may be helpful, knowing the precise form of your disease is not needed to receive proper treatment.
Depending on your particular symptoms, a diagnosis of scleroderma may be made by:
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. Such as:
Once your doctor has taken a thorough medical history, he or she will perform a physical exam. Finding one or more of the following factors can help diagnose certain forms of scleroderma:
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:
A number of other scleroderma-specific antibodies can occur in people with scleroderma, although less frequently. When present, however, they are helpful in clinical diagnosis.
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 have their limitations, for example, a biopsy cannot distinguish between localized and systemic disease.
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 and as the doctor is able to rule out some other potential causes of the symptoms. In some cases, a diagnosis is never made, because the symptoms may go away on their own.
What Other Conditions Can Look Like Scleroderma?
Symptoms similar to those seen in scleroderma can occur with a number of other diseases. Here are some of the most common lookalikes:
Eosinophilic fasciitis (EF): Eosinophilic fasciitis is a disease that involves the fascia, the thin connective tissue around the muscles, particularly those of the forearms, arms, legs, and trunk. EF causes the muscles to become encased in collagen, the fibrous protein that makes up tissue such as the skin and tendons. Permanent shortening of the muscles and tendons, called contractures, may develop, sometimes causing disfigurement and problems with joint motion and function. EF may begin after hard physical exertion. The disease usually fades away after several years, but people sometimes have relapses. Although the upper layers of the skin are not thickened in EF, the thickened fascia may cause the skin to look somewhat like the tight, hard skin of scleroderma. A skin biopsy easily distinguishes between the two.
Undifferentiated connective tissue disease (UCTD): a diagnosis for patients who have some signs and symptoms of various related diseases, but not enough symptoms of any one disease to make a definite diagnosis. In other words, their condition hasn't "differentiated" into a particular connective tissue disease. In time, UCTD can go in one of three directions:
Overlap syndromes: a disease combination in which patients have symptoms and lab findings characteristic of two or more conditions. At other times, symptoms resembling those of scleroderma can be the result of an unrelated disease or condition. For example:
