Diffuse scleroderma
Overview
Scleroderma is a chronic autoimmune disease characterized by a hardening or sclerosis in the skin or other organs. The localized type of the disease, known as "morphea", while disabling, tends not to be fatal. The systemic type or systemic sclerosis, the generalized type of the disease, can be fatal, as a result of heart, kidney, lung or intestinal damage. It is currently not fully understood what exactly causes this disease, although there are various theories.
Symptoms
- Skin symptoms
- Skin thickening
- Stiff skin
- Hyperpigmentation
- Shiny skin
- Finger swelling
- Thickening of the skin on the fingers
- Sclerodactyly
- Blood vessel thickening
- CREST - a pattern of 5 conditions: Calcinosis, Raynaud's, Esophageal dysfunction, Sclerodactyly, Telangiectasias
- Calcinosis
- Raynaud's phenomenon
- Esophageal dysfunction
- Sclerodactyly
- Telangiectasias
- Raynaud's - and this includes various symptoms of Raynaud's:
- Finger sensitivity
- Toe sensitivity
- Cold sensitivity
- Changes in skin color
- Finger pain
- Toe pain
- Fingertip ulcers
- Toe ulcers
- Joint symptoms
- Stiff joints
- Contracted joints
- Joint pain
- Finger joint symptoms
- Wrist joint symptoms
- Elbow joint symptoms
- Knee joint symptoms
- Finger ulcers
- Difficulty swallowing
- Heartburn
- Indigestion
- Loss of movement
- Shortness of breath
- Heart symptoms
- Cardiomyopathy
- Pericardial effusion
- Irregular heartbeat
- Pericarditis
- Myocardial fibrosis
- Congestive heart failure
- Weight loss
- Malaise
- High blood pressure - from kidney involvement
- Fibrosis
- Vasculopathy
- Dry skin patches
- Hardening of skin
- Joint pain
- Stiffness
- Fatigue
- Skin atrophy
- Skin pigmentation
- Muscle inflammation
- Skin inflammation
- Swollen fingers
- Swollen hands
- Progressive interstitial fibrotic lung disease
- Progressive kidney failure
- Hypertension
- Impaired esophageal motility
- Impaired motility in the colon
- Impaired immune system
- Impaired muscular activity in intestines
- Swollen feet
- Loss of skin elasticity
Causes
There is no clear obvious cause for scleroderma and systemic sclerosis. Genetic predisposition appears to be limited: genetic concordance is small; still, there often is a familial predisposition for autoimmune disease. Polymorphisms in COL1A2 and TGF-β1 may influence severity and development of the disease. There is limited evidence implicating cytomegalovirus (CMV) as the original epitope of the immune reaction. Organic solvents and other chemical agents have been linked with scleroderma.
One of the suspected mechanisms behind the autoimmune phenomenon is the existence of microchimerism, i.e. fetal cells circulating in maternal blood, triggering an immune reaction to what is perceived as "foreign" material.
A distinct form of scleroderma and systemic sclerosis may develop in patients with chronic renal failure. This entity, nephrogenic fibrosing dermopathy or nephrogenic systemic fibrosis, has been linked to the exposure to gadolinium-containing radiocontrast.
Bleomycin (a chemotherapeutic agent) and possibly taxane chemotherapy may cause scleroderma, and occupational exposure to solvents has been linked with an increased risk of systemic sclerosis.
Diagnosis
Diagnosis is by clinical suspicion, presence of autoantibodies (specifically anti-centromere and anti-scl70/anti-topoisomerase antibodies) and occasionally by biopsy. Of the antibodies, 90% have a detectable anti-nuclear antibody. Anti-centromere antibody is more common in the limited form (80-90%) than in the systemic form (10%), and anti-scl70 is more common in the diffuse form (30-40%) and in African-American patients (who are more susceptible to the systemic form).
In 1980 the American College of Rheumatology agreed upon diagnostic criteria for scleroderma.