Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The CREST syndrome refers to a disorder comprising the manifestations of calcinosis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia. Thirteen CREST patients (two with CRST) were compared with 26 patients with systemic sclerosis but without the full manifestations of the CRST syndrome. No significant difference was found between the groups in the age of onset of Raynaud's phenomenon, degree of multiphasic digital color changes, ulcerations of fingers, sclerodactyly, or in the frequency of abnormal esophageal peristalsis or dysphagia. Laboratory results were similar, including the frequency of an elevated ESR. However, the CREST patients had a significantly lower frequency of arthralgia (54%) and arthritis (15%) than did those with scleroderma (88% and 65%, respectively). All but one of the CREST patients were women, which was a greater proportion than found among scleroderma cases (69%), and all were white (P less than .05). Most patients with the CREST syndrome had rather severe acrosclerosis. At last evaluation, four patients were chronically ill and three had died. The CREST and CRST syndromes are closely related disorders that seem to be part of the spectrum of systemic sclerosis.
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PMID:The 'CREST' syndrome. Comparison with systemic sclerosis (scleroderma). 50 20

Fifteen children, ten with localized forms of scleroderma and five with progressive systemic sclerosis (PSS), were reviewed. Age of onset was 2 to 11 years. Mean follow-up was 3.4 years. Localized forms were: "en coup de sabre" in two cases, lineal scleroderma of extremities in five, morphoea in one, and combined lesions in two patients. None of them had systemic symptoms, although two had transient arthritis. Affected skin became atrophic in three cases, "En coup de sabre" lesions were removed surgically in two cases, and there were not recurrences. The other patients continued the same or worse. All five patients with PSS showed extracutaneous symptoms. Three of them with acrosclerosis, Raynaud's phenomenon and dysphagia. One patient died because of pulmonary fibrosis in less than a year. Disease remained unchanged in the other patients. The course of disease does not seems to be affected by treatment with several drugs (asiaticoside, colchicine, diphenyldantoin).
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PMID:[Scleroderma in children]. 75 91

Numerous drugs have been recommended for the treatment of systemic sclerosis, but without any significant effect on the fibrotic stage of this disorder. Because recombinant gamma-interferon (gamma-IFN) is a potent and selective inhibitor of fibroblast proliferation and collagen production by human dermal fibroblasts in vitro, we assessed the effects of gamma-IFN treatment on the skin and on pulmonary function in patients with systemic sclerosis. Fourteen patients entered the study, and nine completed the 12-month trial. Fifty micrograms/day of gamma-IFN was administered subcutaneously 3 days per week. At the end of the 12-month treatment period a significant improvement was observed in total skin score, and blood gas analysis showed a significant increase in Pa O2 during therapy with gamma-interferon. Other clinical parameters (dysphagia, Raynaud's phenomenon, cardiac involvement) were not altered significantly. No serious adverse effects were noted. These results suggest a beneficial effect of gamma-IFN on the cutaneous fibrotic abnormalities and on lung fibrosis in systemic sclerosis.
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PMID:Treatment of systemic sclerosis with gamma-interferon. 161 Jun 90

Fifty-one patients with systemic sclerosis (scleroderma) underwent videofluoroscopy during barium swallow to evaluate the incidence of oropharyngeal deglutition abnormalities and to correlate the radiologic patterns of esophageal motility abnormalities with patients' clinical features. Thirteen patients (26%) showed swallowing dysfunction, (e.g., oral leakage, retention, penetration, mild or moderate aspiration, and upper esophageal sphincter incoordination). These dysfunctions were more severe in patients with prominent esophageal dysmotility. Normal esophageal motility was not associated with swallowing alterations. Patients with an oropharyngeal disorder had a higher incidence of pulmonary disease. The clinical picture of the above-mentioned 13 patients was more severe, based on the duration of Raynaud's phenomenon and duration of skin sclerosis. Patients with primary Raynaud's phenomenon had no oral or esophageal abnormalities. The esophageal phase of swallowing was abnormal in 80% of the patients with scleroderma. Esophageal dysfunction, therefore, seems to be frequent in the early stages of the disease. However, patients with advanced or extensive disease may have normal esophageal function.
Dysphagia 1991
PMID:Oropharyngeal and esophageal function in scleroderma. 177

Neurologic manifestations, afflicting up to 70% of SLE patients, include psychosis, seizures, chorea, neuropathies, and stroke. MRI is useful in evaluation of lupus patients and several reports have documented cerebral atrophy or focal hyperintensities. We report an unusual MRI appearance in a 56-year-old woman with SLE, diagnosed on the basis of pleuritis, lymphopenia, anti-DNA antibodies, and neurologic involvement. She reported recent onset of Raynaud's phenomenon and generalized macular rash. She presented after two months of gradual deterioration with memory loss, flattened affect, dysphagia, dysarthria, anomia, and somnolence, without focal neurologic signs. Investigations included elevated ESR, reduced complement, normal CSF without oligoclonal bands, negative viral serology, normal hormone and vitamin levels, normal renal and hepatic function. Neuropsychologic testing showed widespread impairment (WAIS-R: FSIQ-63; WMS-69; DRS-98; RCPM-14; WAB AQ-78.8). CT was normal but MRI showed strikingly symmetric, confluent hyperintensities extensively involving cerebral and cerebellar white matter on T1 and T2 weighted scans. Basal ganglia and subependymal and subcortical white matter were spared. Treated with prednisone, the patient made a gradual, but incomplete, recovery. These MRI findings may reflect widespread vasculopathy or direct immunologic brain insult with or without immunologic blood-brain barrier disruption.
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PMID:Dementia with leukoencephalopathy in systemic lupus erythematosus. 191 71

Systemic sclerosis is more common among men exposed to silica-containing dust than in the general male population. The clinical features of systemic sclerosis in a group of 24 black goldminers are described. The better-known presenting features of systemic sclerosis, including Raynaud's phenomenon and dysphagia, were rare in this population. Initial presentation was usually with nonspecific features including swelling of the feet or hands, weakness, arthralgia or symptoms of respiratory or cardiac disease. Clinical evidence of pleural or pericardial involvement was more common than is usually described in non-occupational systemic sclerosis. Interstitial lung disease was frequently encountered and renal disease was rare.
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PMID:Features of systemic sclerosis (scleroderma) in South African goldminers. 233 May 24

A patient who developed mutilans-type arthropathy, splenomegaly, leukopenia, leg ulcer and massive hydroxyapatite accumulation during the course of progressive systemic sclerosis (PSS) was reported. A 56-years-old female had suffered Raynaud's phenomenon since the beginning of her third decade. She developed multiple symmetrical arthritis and morning stiffness at the age of 29, and was treated with NSAIDs and low dose corticosteroids under the diagnosis of rheumatoid arthritis (RA) Because of dysphagia and diarrhea, she was admitted in Niigata-Kenritsu Senami Hospital in September, 1987. Physical and roentgenographic examinations revealed diffuse scleroderma, mutilans-type arthropathy, lung fibrosis, splenomegaly and right leg ulcer. Laboratory examinations showed leukopenia, high titer of anti-DNA antibody, positive anti-Scl-70 antibody and mild hypocomplementemia. These findings suggested that she had PSS and Felty's syndrome. Furthermore, massive subcutaneous and intraarticular hydroxyapatite accumulation were noticed. The leg ulcer and laboratory data gradually improved with the combination therapy of corticosteroids, D-penicillamine and plasmapheresis. Although it has been well recognized that PSS patients reveal frequently the articular lesions similar to these of RA, severe mutilans-type arthropathy seen in this case is extremely rare. The joint contracture might be induced by hydroxyapatite accumulation, of which the early diagnosis seems to be very important in long-standing PSS patients.
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PMID:[A case of progressive systemic sclerosis associated with mutilans-type arthropathy and suspected Felty's syndrome]. 237 41

It is well known that patients with progressive systemic sclerosis (PSS), as well as other autoimmune disease, have various kinds of autoantibodies. We presented two PSS patients with anti Wa antibody, which had recently been reported as a new anti cytoplasmic antibody in only one case with PSS. Our first case, 49 years old female had clinical features of arthralgia, Raynaud's phenomenon, sclerodactyly, transient myalgia and sicca complex. Her laboratory findings showed hypergammaglobulinemia (1.9 g/dl), positive RAHA (1: 640) anti Wa antibody (1: 256), and anti SS-A antibody (1: 256). Second case, 64 years old female had also clinical features of Raynaud's phenomenon, sclerodactyly, dysphagia, dyspnea on exertion and dry mouth. Furthermore lung fibrosis and dysmobility of upper GI tract were observed. FANA (1: 20) was detected as nucleolar pattern, and the titer of anti Wa antibody was 1: 64. Clinical findings of myositis were not seen in both cases. This study suggested that anti Wa antibody might be one of the diagnostic marker on PSS.
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PMID:[Clinical study on two cases of progressive systemic sclerosis with anti Wa antibody]. 263 85

Scleromyxedema is an infiltrative skin disease produced by hyaluronic acid deposition in the dermis. A benign monoclonal gammopathy is usually present. We report 2 patients with scleromyxedema and systemic illnesses. Both patients had muscle weakness, dysphagia, and weight loss in addition to the skin changes. One also had sclerodactyly, telangiectasias, and Raynaud's phenomenon. Scleromyxedema with systemic involvement may mimic rheumatic diseases.
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PMID:Scleromyxedema with systemic involvement mimics rheumatic diseases. 294 92

Scleromyxedema is a rare fibromucinous connective tissue disorder characterized by papular skin lesions associated with sclerosis and a serum monoclonal gammopathy. Little is known about either the natural history or the systemic manifestations of this disease. We reviewed the medical records of 19 patients with biopsy-proven scleromyxedema seen from 1950 to 1985 for evidence of systemic disease. There were 10 males and 9 females with a median age at diagnosis of 53 years. Monoclonal gammopathy was present in 13 patients. Eight patients complained of dysphagia; 3 had proximal esophageal dysfunction and 1 had total esophageal aperistalsis on barium swallow. Proximal muscle weakness was noted in 5, with an inflammatory myopathy in 3. Six patients complained of dyspnea on exertion. Of these, 5 had reduced diffusing capacity, 3 had reduced volumes, and 2 developed cor pulmonale. Pathologic changes characteristic of "scleroderma kidney" were demonstrated in 1 patient at postmortem. One patient had Raynaud's phenomenon and 2 had arthralgias/arthritis with noninflammatory synovial fluids. Although 8 of 12 patients treated with melphalan noted regression of their skin changes, no consistent improvement in the extracutaneous manifestations was demonstrated. Furthermore, 2 patients died of sepsis related to melphalan-induced myelosuppression, and 4 developed hematological malignancies following melphalan therapy. In conclusion, systemic manifestations in scleromyxedema are more prevalent than previously recognized, and can resemble those of scleroderma. Significant toxicity occurred with the use of alkylating agents in these patients, with treatment-related complications developing in 45% of patients treated with melphalan. The lack of definitive data regarding the natural history of this disease complicates the question of optimal therapy, but the use of alkylating agents should be reserved for those patients with severe debilitating skin disease.
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PMID:Scleromyxedema: a scleroderma-like disorder with systemic manifestations. 333 81


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