Q: My son's hands started to swell more than a year ago, then his fingers and forearms got real hard. Then the skin around his mouth stated to wrinkle. After that he started to have difficulty swallowing.
The doctors finally diagnosed him as having scleroderma CREST and told him he didn't have a great future. Is there any encouraging news?
-- P.J., Buffalo
A: Scleroderma (also called systemic sclerosis) is potentially a very serious disease. But the prognosis (estimate of how the disease will progress) is based on many factors, including age at diagnosis, how fast it is progressing now, and which subtype it is. The most encouraging news I have is that the CREST form of scleroderma is less aggressive than other forms.
Scleroderma is a chronic connective tissue disorder characterized by degenerative changes and scarring on the skin and in the joints and internal organs. Symptoms usually begin to appear between the ages of 30 and 50, and women are affected two to three times more often than men.
The cause is not known, but it's probably an autoimmune disease in which the immune system is out of control, misinterpreting some of the body's normal tissues as foreign and attacking them.
Symptoms usually show up first as changes in the skin, such as plaque-like thickenings and discolorations. This will increase and progress over time. Other early symptoms include itching and difficulty opening the mouth and swallowing.
Scleroderma is characterized as either being limited or diffuse. The problems and symptoms in people with limited systemic scleroderma are mostly, but not entirely, related to the skin. They also will usually have cold extremities and some arthritis.
People with diffuse systemic scleroderma have a much more rapid progression of the disease to internal organs. This can eventually affect the gastrointestinal tract, lungs, heart, and kidneys. At this point, scleroderma is a life-threatening disease.
The course of the disease is variable and unpredictable, but the amount of involvement within the first few years of the disease indicates how bad it will get. Although some damage to internal organs is almost inevitable, sometimes many years go by before this damage is seen.
There is no known cure for scleroderma. Treatment is limited to relief of symptoms and general care of the organ system under the most severe attack.
Treatment of systemic scleroderma is directed at (1) improving blood flow to the extremities with vasodilator drugs, such as captopril; (2) preventing the synthesis and release of harmful immune chemicals with drugs that suppress the immune system, such as methotrexate; and (3) inhibiting or reducing formation of fibrosis with drugs that reduce collagen synthesis or enhance collagenase production, such as colchicine.
The treatment options available for skin problems caused by scleroderma include the use of corticosteroids, vitamin D-type drugs such as calcitriol and calcipotriene, and ultraviolet light.
Recently, a new drug has been shown to be effective in the treatment of scleroderma. The drug is called relaxin and is a natural human hormone and antifibrosis drug that increases during pregnancy. For people with scleroderma, relaxin improved the ability of the skin to stretch, the ability to breathe and the overall ability to function.
At this point it appears that your son has a localized form of scleroderma, and he has a chance that the disease will not spread. I suggest he talk with the doctor and find out much more about his prognosis.
Write to Allen Douma in care of Tribune Media Services, 2225 Kenmore Ave., Suite 114, Buffalo, N.Y. 14207; or contact him at DRFamily@aol.com. This column is not intended to take the place of consultation with a health-care provider.