Ask the Expert: What You Need to Know About Scleroderma

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In this week’s installment of Ask the Expert, Dr. Jessica Gordon, Rheumatologist, answers questions on early signs of scleroderma in honor of Scleroderma Awareness Month. To learn more about research and care at HSS, check out the Scleroderma, Vasculitis & Myositis Center.

Q1. What is scleroderma?

The term scleroderma means hard skin, and the presence of hard skin is a characteristic of a group of conditions which represent a spectrum of diseases. Systemic sclerosis or scleroderma is a chronic autoimmune disease. It can affect the blood vessels, the skin, and the internal organs. The symptoms and manifestations vary from patient to patient. Some common symptoms include the Raynaud’s phenomenon or color changes of the fingers and toes in the cold, arthritis or joint pain, skin thickening or tightening, and reflux or other gastrointestinal problems. Some of the more serious manifestations include interstitial lung disease, pulmonary hypertension, heart problems, and kidney problems.

The term scleroderma is also used when referring to localized scleroderma, which may also be called morphea, linear scleroderma, or en coup de sabre. These are actually different conditions which also lead to hardening or thickening of the skin.

Q2. What are the early signs of Systemic sclerosis?

The Raynaud’s phenomenon is often the first symptom of systemic sclerosis. This is when the fingers turn white, red, and/or blue in response to the cold or stress. However, it is important to note that most people who have Raynaud’s phenomenon do not have scleroderma. Up to 15% of certain populations may have the Raynaud’s phenomenon compared to <0.001% of the population who has systemic sclerosis.

Other common initial symptoms include hand swelling or puffiness and thickening of the skin. Many patients will also describe fatigue or not feeling well. Some people experience itchiness, joint pain, muscle aches, skin thickening, or skin discoloration.

Q3. Are there multiple types of scleroderma that could be diagnosed?

Systemic sclerosis is classified as limited or diffuse depending on the extent of involvement of the skin. Some people have systemic sclerosis and have normal skin, but they have other manifestations of the disease. Scleroderma is seen in localized forms as well as where only the skin is affected. This is seen in morphea or localized scleroderma.

Q4. Who is often diagnosed with scleroderma?

Systemic sclerosis is a rare disease. It can occur in any age group, but it usually occurs in adults in their 20s to 50s. About 80% of patients with systemic sclerosis are women and about 20% are male. Localized scleroderma may be seen in adults or children.

Q5. What should I do if I am concerned that I might have scleroderma?

It is very important to be seen by a rheumatologist with expertise in systemic sclerosis if you are concerned about this diagnosis or if another physician has diagnosed you with systemic sclerosis. Because this is such a rare disease, many physicians are not aware of screening recommendations or treatment options, which are available. People with systemic sclerosis need a rigorous evaluation for cardiac and lung disease as well as counseling on how to monitor for the more serious signs and symptoms of this condition. Depending on the manifestations in a given individual, aggressive physical and occupational therapy may be required to prevent disability. Treatments are available which can help improve pain, various disease manifestations, and improve quality of life. However, there is no cure for this chronic illness at this point in time. A tremendous amount of research is ongoing to find improved treatments and to better understand systemic sclerosis. Patients with systemic sclerosis should consider whether they would like to involve themselves in research and be part of finding a cure for this disease.

Dr. Jessica Gordon is an Assistant Attending in the Department of Rheumatology at Hospital for Special Surgery. She specializes in the treatment of various rheumatologic conditions including scleroderma, vasculitis, systemic lupus erythematosus, and rheumatoid arthritis.

The information provided in this blog by HSS and our affiliated physicians is for general informational and educational purposes, and should not be considered medical advice for any individual problem you may have. This information is not a substitute for the professional judgment of a qualified health care provider who is familiar with the unique facts about your condition and medical history. You should always consult your health care provider prior to starting any new treatment, or terminating or changing any ongoing treatment. Every post on this blog is the opinion of the author and may not reflect the official position of HSS. Please contact us if we can be helpful in answering any questions or to arrange for a visit or consult.

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  1. My 29 year old daughter was diagnosed 90 days ago. Within 2 weeks she started getting big holes in her skin. In the last week her nose has turned red and is cold in 90° weather. Does this mean the skin on her nose will be opening up next?