What is Scleroderma?
Scleroderma was a term coined to describe a condition of fibrosis or hardening of the skin. In localized scleroderma, the condition is confined to the skin and generally only a small portion of it. In contrast, systemic sclerosis is not merely a disorder of the skin. Systemic sclerosis is characterized by three features:
1) narrowing and obliteration of small blood vessels; 2) fibrosis of the skin and certain internal organs; 3) features of autoimmunity (the presence of auto-antibodies and common overlap with other connective tissue diseases). From individual to individual, the disease will vary in extent and pattern of skin and organ involvement and in rate of progression. In some individuals, the disease findings may be so subtle as to elude diagnosis for decades. In others, the diagnosis may be readily apparent within weeks of onset.
Scleroderma is a disease less well-known than many less common disorders. This lack of awareness contributes to delayed diagnosis and delayed onset of therapy. One of our missions is to increase recognition of this disorder.
Skin manifestations most commonly first affect the digits and face with puffiness often preceding skin tightness. In those with "limited" scleroderma, skin changes generally remain confined to the hands and forearms, lower legs, and face. The progression is slow and skin changes may be minimal and easily missed. In "diffuse" scleroderma, skin changes usually appear more abruptly and progress much more rapidly, often with early involvement of the skin of the trunk, upper arms, and thighs. Tight skin may cause loss of joint motion, particularly at the hands and may be associated with intense itching and widespread joint and tendon discomfort. The fibrosis present in the skin may also affect internal organs, notably the lung and all portions of the gastrointestinal tract, most commonly the esophagus. Shortness of breath, heartburn, and difficulty with swallowing may each be presenting symptoms of the disease. Less commonly, fibrosis may involve the heart.
Vascular features of the disease are most commonly seen in the digits (Raynaud's phenomenon – reversible cold-induced blanching or cyanosis of the fingers or toes), but similar blood vessel changes can occur in the kidney and lung. In the kidney, this can result in sudden, severe, but reversible hypertension. In the lung, the blood vessel changes can increase resistance to blood flow and force the right side of the heart to pump with greater pressure (pulmonary hypertension).
The diagnosis of scleroderma is often possible simply on the basis of history and examination. Blood tests help in categorizing the disease. The history and examination tell us much about the extent and pace of the disease, the impact of the disease on daily activities, and help us determine disease prognosis. Treatment plans must be individualized, though Raynaud's phenomenon and esophageal symptoms afflict at some time and to greater or lesser extent most individuals with this disorder, whether they have limited or diffuse disease.
The diagnosis of scleroderma should generate neither fear nor panic, but is certainly a call for action in determining the nature and extent of the disease. Some individuals may require no drug therapy. Many features of the disease have highly effective treatments. Some disease manifestations may spontaneously subside over time. However, there are aspects of the disease which are still poorly understood and, as a consequence, less satisfactorily addressed. Our mission is to improve not only awareness and recognition, but also to contribute to advances in understanding the disease and in developing new therapies. Much has been accomplished, much needs to be done!
The interested reader is referred to the web-links included on this site for further details.