Scleroderma is caused by genetic and environmental factors.[13][5][4][14] Mutations in HLA genes seem to play a crucial role in the pathogenesis of some cases (but not all), likewise silica, aromatic and chlorinated solvents, ketones, trichloroethylene, welding fumes and white spirits exposure seems to contribute to the condition in a small proportion of affected persons.[13][5][4][14][15]
Typical scleroderma is classically defined as symmetrical skin thickening, with about 70% of cases also presenting with Raynaud's phenomenon, nail-fold capillary changes and antinuclear antibodies. Affected individuals may or may not experience systemic organ involvement. There is no single test for scleroderma that works all of the time and hence the diagnosis is often a matter of exclusion. Atypical scleroderma may show any variation of these changes without skin changes or with finger swelling only.[24]
Laboratory testing can show antitopoisomerase antibodies, like anti-scl70 (causing a diffuse systemic form), or anticentromere antibodies (causing a limited systemic form and the CREST syndrome). Other autoantibodies can be seen, such as anti-U3 or anti-RNA polymerase.[25]
Differential[edit] => Diseases that are often in the differential include:[26]
Eosinophilia, a condition in which there are too many eosinophils (a type of immune cell that attacks parasites and is involved in certain allergic reactions) in the blood.&Eosinophilia-myalgia syndrome, a form of eosinophilia that is caused by L-tryptophan supplements.&Eosinophilic fasciitis, a disease that affects the connective tissues surrounding skeletal muscles, bones, blood vessels and nerves in the arms and legs.&Graft-versus-host disease, an autoimmune condition that occurs as a result of bone marrow transplants in which the immune cells from the transplanted bone marrow attack the host's body.&Mycosis fungoides, a type of cutaneous T cell lymphoma, a rare cancer that causes rashes all over the body.&Nephrogenic systemic fibrosis, a condition usually caused by kidney failure that causes fibrosis (thickening) of the tissues.&Primary biliary cirrhosis, an autoimmune disease of the liver.&Primary pulmonary hypertension&Complex regional pain syndrom
Classification[edit] => Scleroderma is characterised by the appearance of circumscribed or diffuse, hard, smooth, ivory-colored areas that are immobile and which give the appearance of hidebound skin, a disease occurring in both localised and systemic forms:[27]
Localised scleroderma Localised morphea Morphea-lichen sclerosus et atrophicus overlap Generalised morphea Atrophoderma of Pasini and Pierini Pansclerotic morphea Morphea profunda Linear scleroderma&Localised morphea&Morphea-lichen sclerosus et atrophicus overlap&Generalised morphea&Atrophoderma of Pasini and Pierini&Pansclerotic morphea&Morphea profunda&Linear scleroderma&Systemic scleroderma CREST syndrome Progressive systemic sclerosis&CREST syndrome&Progressive systemic sclerosi
Potential signs and symptoms include:[10][11][12]
Cardiovascular: Raynaud's phenomenon (is the presenting symptom in 30% of affected persons, occurs in 95% of affected individuals at some time during their illness); healed pitting ulcers on the fingertips; skin and mucousal telangiectasis; palpitations, irregular heart rate and fainting due to conduction abnormalities, hypertension and congestive heart failure.&Digestive: gastroesophageal reflux disease, bloating, indigestion, loss of appetite, diarrhoea alternating with constipation, sicca syndrome and its complications, loosening of teeth and hoarseness (due to acid reflux).&Pulmonary: progressive worsening of shortness of breath, chest pain (due to pulmonary artery hypertension) and dry, persistent cough due to interstitial lung disease.&Musculoskeletal: joint, muscle aches, loss of joint range of motion, carpal tunnel syndrome and muscle weakness.&Genitourinary: erectile dysfunction, dyspareunia, scleroderma renal crises and kidney failure.&Other: facial pain due to trigeminal neuralgia, hand paresthesias, headache, stroke, fatigue, calcinosis and weight loss