Written by James R. Seibold, M.D.
Director, Rheumatology & Scleroderma Program
New Brunswick, NJ
Diffuse scleroderma is the most serious an aggressive form of scleroderma. Before we describe it, its always useful to get the complex medical terminology straightened out.
The word, scleroderma, derives from the Greek (Skleros – hard, derma – skin). There are over 50 distinct medical conditions where tightening and thickening of the skin are present so one can consider a generic group of “sclerodermas”. In everyday life, doctors use the term “scleroderma” to describe the illness known as systemic sclerosis and to describe another group of illnesses that affect only the skin known as localized scleroderma.
Localized scleroderma is by far and away the most common form of scleroderma in children. It can occur as patches (termed morphea) or as a line usually affecting one arm or leg one side of the face (termed linear scleroderma). While morphea can be comestically important and while linear can impair normal growth of the affected arm or leg, these two “sclerodermas” are unrelated to systemic sclerosis and DO NOT CAUSE internal organ problems. The most common misunderstanding and source of fear for the family of the child recently diagnosed with localized scleroderma is that somehow the illness will change into systemic sclerosis. This simply doesn’t happen other than by rare chance alone.
Systemic sclerosis occurs mainly in women between the ages of 20 and 50 and is considered quite uncommon in children. While every patient with systemic sclerosis is unique, there are recognizable patterns of how the disease develops and behaves.
One common pattern of systemic sclerosis is to begin with Raynaud’s Phenomenon – color changes in the fingers when exposed to cold. Months to years might intervene until the next symptom of puffy fingers which is then followed by development of scleroderma thickening over the fingers, hands and face. Skin thickening stays limited in distrubution and tends to not change very much over time. This syndrome is called systemic sclerosis with limited scleroderma. This used to be called “CREST” syndrome because Calcium deposits in the skin; Raynaud Phenomenon; Eosphagus involvement; Sclerodactyly; and Telangiectasias (characteristic red vascular freckle – like lesions) were the most obvious clinical features. Modern researchers recognize that the C, R, E, and T occur in all patients with systemic sclerosis thus we classify the disease based on the extent of involvement of the skin – limited versus diffuse. Patients with limited scleroderma tend to have a slow, relatively benign illness although there is an important risk of lung involvement in late stages of illness.
The other common pattern of illness is typical of systemic sclerosis with diffuse scleroderma. In this form, Raynaud phenomenon and puffy fingers tend to start at about the same point in time. Skin thickening usually follows within weeks. Again, it begins on the fingers but in diffuse scleroderma, skin thickening spreads rapidly up the arms and onto the trunk and legs. Although there are many expectations, and average natural course of disease is to worsen skin thickening both in terms of extent and severity of involvement over the first 1 – 2 years. Thereafter, skin thickening stabilizes and in many patients begins to spontaneously improve. Researchers consider that if skin thickening is present in body locations above the elbows or knees or is on the chest or abdomen that diffuse scleroderma is the correct diagnoses.
Persons with diffuse scleroderma are at high risk for developing intestinal, lung, heart and kidney involvement along with restricted motion, discomfort and diminished quality of life. The risk of new internal problems seems to be highest during the first one or two years when the skin involvement is worsening. Once skin involvement has plateaued or started to improve, the risk risk of new internal organ involvement is much reduced. However, unlike skin, organ involvement does not reverse with time.
Early organ involvement tends to worsen with time so that even though the skin has improved, the total illness has an ever increasing impact on health, function and well-being.
PLEASE NOTE : If you are a child with localized scleroderma, there is NO RISK of your illness changing into either diffuse or limited scleroderma. Some patients with diffuse scleroderma have morphea – like patches of skin involvement as part of their widespread skin involvement. This is more common in persons with dark complexions. The internet and some patient literature is confusing and frightening on this issue. It remains true that localized scleroderma does not turn into systemic sclerosis.
Diffuse scleroderma is the subject of intense research interest. Unmet medical need is the highest in diffuse scleroderma. It has been long thought that breakthroughs in treatment will follow a predictable order. A drug will hopefully soon be developed that is effective for diffuse scleroderma. Once the effectiveness and safety of this treatment is proven in adults, the treatment will be extended to adults with limited scleroderma and children with either limited or diffuse scleroderma. Finally, it is possible that a therapy that works for skin involvement in systemic sclerosis might also work for the skin involvement of localized scleroderma.
Currently, there are no proven effective treatments for any form of scleroderma. Recent years have been notable for an ever increasing number of large scale, high quality, controlled clinical trials that offer the most reliable sort of information about treatment. The patient with scleroderma deserves nothing less! Old treatments, once held to be effective, have been demonstrated not to work including oral methotrexate and D-penicillamine. Newer treatments of much greater scientific promise have not withstood the crucible of well – designed trials including interferon – alpha, photopheresis. In spite of setbacks, clinical research in scleroderma has never been more active and never been more promising. Modern research trials seek to reduce inflammation and immune response in early disease in the hope that this will prevent skin and organ damage. Other agents are designed to reverse disease by accelerating the breakdown of scar tissue. Of great promise are a variety of emerging drugs that hope to slow or reverse blood vessel injury in systemic sclerosis.
Because children deserve a higher standard of safety and proof of effectiveness, most experimental treatments will be first tested rigorously in adults.
Please keep in mind, this webpage is for your information only.
Please check with your child's physician for any treatments.
For more information on Juvenile Scleroderma, contact:
Juvenile Scleroderma Network, Inc.
1204 W. 13th Street, San Pedro, CA 90731
Tel: (310)519-9511 (Pacific Time)
24 Hour Support Line: 1-866-338-5892 (toll-free)
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provided by home-based JSD volunteers. For medical advice, please
contact your child's physician.
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