Scleroderma is difficult to diagnose as it overlaps and resembles many other conditions. Depending on your particular symptoms, a diagnosis of scleroderma may be made by a general internist, a dermatologist (a doctor who specializes in treating diseases of the skin, hair, and nails), an orthopaedist (a doctor who treats bone and joint disorders), a respirologist (a lung specialist), or a rheumatologist (a doctor specializing in treatment of musculoskeletal disorders and rheumatic diseases).
A diagnosis of scleroderma is based largely on a medical history and findings from the physical exam.
Typically, to make a diagnosis, your doctor will ask you 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. Finding one or more of the following factors may indicate scleroderma:
Changes in skin appearance and texture, including swollen fingers and hands and tight skin around the hands, face, mouth, or elsewhere
Calcium deposits developing under the skin
Changes in the tiny blood vessels (capillaries) at the base of the fingernails
Thickened skin patches.
Lastly, 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 30 percent of people with diffuse systemic sclerosis.
Anticentromere antibodies are found in the blood of many people with limited systemic sclerosis.
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 and may give additional information as to the risks for specific organ problems.
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 (the surgical removal of a small sample of skin for microscopic examination) to aid in or help confirm a diagnosis. However, skin biopsies also have their limitations: biopsy results 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 longer, 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 that prompted the visit to the doctor go away on their own.
Some patients have some symptoms related to scleroderma and may fit into one of the following groups:
Undifferentiated connective tissue disease (UCTD): Patients who have some signs and symptoms of various related diseases, but too few symptoms of any one disease to make a definitive diagnosis. In other words, their condition hasn’t “differentiated” into a particular connective tissue disease. In time, UCTD can progress in one of three directions:
Change into a systemic disease such as systemic sclerosis, systemic lupus erythematosus, or rheumatoid arthritis;
Remain undifferentiated; or
Overlap syndromes: Patients have symptoms and lab findings characteristic of two or more conditions.