Scleroderma or Progressive Systemic Sclerosis
Scleroderma is a disease of the skin and many other organs where the connective tissues crowd out the working tissues of the organ. In the skin, the collagen multiplies so that the hair follicles and moisture glands are replaced and the skin becomes leathery and thicker. This can be very dangerous in the vital organs such as the lungs, heart, kidneys and gut. The cause is unknown, but the fibroblasts start to grow the connective tissues of the involved organ without regard for the working tissues, and produce abundant scar tissue.
Unfortunately, there is still no cure or reliable treatment for scleroderma. Scleroderma is rare, affecting about 100,000 in the USA, most of whom are women, and most often it starts in middle age, but can affect any age. There are two main types, localized (affects the skin on the face, hands, and feet) and systemic (affects skin as well as blood vessels and major internal organs). Localized scleroderma can spread locally from the skin to involve muscles, joints and bones. Discolored and thickened patches of skin is Morphea, while bands of thick hardened skin is called linear scleroderma, or coup de sabre if on the face or forehead. CREST syndrome can also involve Raynauds and difficulty swallowing as well as the skin changes above. Systemic disease will eventually produce symptoms of deteriorating organ function as the vital and major organs are scarred.
Diagnosis is established by confirmation of specific symptoms and signs of scleroderma, such as Raynaud’s phenomenon, skin thickening swelling and tightening, heartburn, high blood pressure from kidney problems, difficulty swallowing, weight loss, shortness of breath, and joint inflammation. Pulmonary function testing and echocardiogram for right heart function can find early evidence of systemic involvement. Treatment is oriented to treating the symptoms and complications of the patient since there is not a treatment to control the disease. Hopefully research will find a treatment for the disease soon. There are effective treatments for some of the complications of severe disease such as acute kidney disease, pulmonary hypertension and fibrosis, lung inflammation, and gastrointestinal problems. The Scleroderma Foundation www.scleroderma.org is available for more information.
