Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0036421 (PSS)
 10,989 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on two patients (one female 42 years, one male 47 years) suffering from insulin-dependent diabetes mellitus (IDDM) for more than 20 years. Both patients exhibited sclerodactyly and sclerosis of the hands and lower arms as well as swelling and slight contracture of the distal interphalangeal joints. Interestingly, internal organs were not involved and autoantibodies characteristic for scleroderma were missing. Poor utilization and excess of glucose seem to be responsible for the activation of fibroblasts to produce abundant matrix proteins in the skin. Significant therapeutic improvement of the glucose metabolism was able to improve joint contractures or at least to stop the progression of skin changes in our patients. These skin changes should not be misdiagnosed as systemic sclerosis.
 ...
PMID:Scleroderma-like lesions in insulin-dependent diabetes mellitus. 1056 31

Serum containing anti-U1RNP antibodies reacts with the nuclear matrix, the relatively insoluble component of the cell nucleus, in addition to U1RNP. In this study, we determine the serum titer and clinical correlations of antinuclear matrix antibodies in samples from patients with anti-U1RNP antibodies. The patients with anti-U1RNP antibodies were classified as having mixed connective tissue disease (MCTD, 15 patients), systemic sclerosis (SSc, 12 patients), systemic lupus erythematosus (SLE, 7 patients), and undifferentiated CTD (UCTD, 9 patients). Antinuclear matrix antibodies were detected using indirect immunofluorescence staining on HCl-treated HEp-2 cells. The antinuclear matrix antibody titer was significantly higher in serum from patients with MCTD or SSc than in serum from patients with SLE or UCTD. The antinuclear matrix antibody titer was significantly increased in serum from patients with sclerodactyly, pitting scars, contracture of the phalanges, and decreased carbon monoxide diffusion capacity. Thus, a higher titer of antinuclear matrix antibodies in serum from patients with anti-U1RNP antibodies may be associated with a clinical diagnosis of MCTD or SSc rather than a diagnosis of SLE or UCTD.
 ...
PMID:Clinical significance of antinuclear matrix antibody in serum from patients with anti-U1RNP antibody. 1074 56

Interstitial pulmonary fibrosis is the leading cause of secondary pulmonary hypertension in systemic sclerosis, and it occurs in either limited or diffuse cutaneous scleroderma subset. Isolated pulmonary hypertension, without pulmonary disease, occurs primarily in patients with limited cutaneous scleroderma (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia [CREST] variant) although it is an unusual feature in this subset, with a worse prognosis in the short term. We present a previously undiagnosed patient with the CREST syndrome, with severe isolated pulmonary hypertension and secondary respiratory failure as major feature of its connective tissue disease. Clinical, prognostic and therapeutical aspects are commented.
 ...
PMID:[Severe isolated pulmonary hypertension as main manifestation of Crest syndrome]. 1098 35

A 51-year-old female developed linear-like scleroderma in the left thigh following a linear wound caused by a car accident. 27 years later she also developed a typical diffuse cutaneous systemic sclerosis with extensive skin involvement and bibasilar pulmonary fibrosis. The second case is a 39-year-old female who had a history of Raynaud's phenomenon since early childhood. She developed a morphea following a burning injury of the left thigh. 17 years later she also developed a typical limited cutaneous systemic sclerosis with sclerodactyly, skin ulcers and subcutaneous calcinosis. The third case is a 43-year-old female who developed a typical morphea of the right elbow around the site of a previous local corticosteroid injection. The two remarkable points of these 3 cases are the possible role of physical injury in the provocation of localized scleroderma and in the first 2 cases the unusual later development of a systemic form of scleroderma.
 ...
PMID:Physical injury as a provoking factor in three patients with scleroderma. 1107 7

Antibodies to U1 ribonucleoproteins (RNP) have been detected in serum from patients with various autoimmune diseases. However, the presence of anti-U1RNP antibodies in patients with localized scleroderma has not been reported. In this study, we examined the frequency of anti-U1RNP antibodies using immunoprecipitation of U small nuclear RNAs and determined the antigen specificity by immunoblotting. Of 70 serum samples from patients with localized scleroderma, 2 (3%) immunoprecipitated U1 small nuclear RNA. Indirect immunofluorescence using HEp-2 cells as substrate showed coarse speckled nuclear fluorescence without nucleolar staining in both of the samples positive for anti-U1RNP antibodies. In addition, the presence of anti-U1RNP antibodies in each serum sample was confirmed by immunodiffusion against HeLa cell extracts. Immunoblotting analysis showed anti-70 kDa antibodies in each serum sample. This reaction against 70 kDa protein in the patients with localized scleroderma was analogous to that in patients with systemic sclerosis or mixed connective tissue disease. Both patients with positive serum were diagnosed as having linear scleroderma, but neither had evidence of Raynaud's phenomenon or sclerodactyly. These results indicate that the presence of anti-U1RNP antibodies is one of the serological abnormalities in localized scleroderma, and that the mechanism of induction of anti-U1RNP antibodies in patients with localized scleroderma might be similar to that in patients with systemic sclerosis and mixed connective tissue disease.
 ...
PMID:Anti-U1RNP antibodies in patients with localized scieroderma. 1175 88

The association of Systemic Sclerosis (SSc) and Psoriatic Arthritis (PsA) is unfrequent; only few cases are reported in literature. We describe a case of a patient with SSc following the onset of PsA. The disease begun with tenosynovitis, polyarthritis in association with psoriasis. After two years, Raynaud's phenomenon and sclerodactyly appeared, and, later, pulmonary interstitial fibrosis and esophageal dysfunction. The existence of a common pathogenesis of the two diseases, SSc and PsA, is discussed.
 ...
PMID:[Association of systemic sclerosis and psoriatic arthritis: a case report] 1216 77

CREST syndrome, a relatively benign, slowly progressive variant of systemic scleroderma consists of calcinosis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia. Although the association of this syndrome with primary biliary cirrhosis (PBC) is recognized in women, it has never been described in a man. We report the rare case of a male patient with CREST syndrome accompanied by PBC, manifested by acute cholecystitis and mild jaundice. The association of the two conditions is clinically and etiologically important. Clinicians must be aware of this association, sincethe clinical features of CREST syndrome may be mild and may be thought to be complications of the underlying liver disease.
 ...
PMID:Primary biliary cirrhosis accompanied by CREST syndrome. 1235 9

Excessive production of extracellular matrix (ECM) constituents is a hallmark scleroderma or systemic sclerosis (SSc). Fibrillin-1, a major component of microfibrils in the ECM, may play a role in the pathogenesis of SSc. The TSK1 mouse model of SSc bears an in-frame duplication of the Fibrillin-1 gene (FBN1) which results in a larger than normal protein that is more susceptible to proteolysis. Metabolic labeling studies of Fibrillin-1 in human SSc dermal fibroblasts demonstrated that while normal amounts of Fibrillin-1 are synthesized, the protein itself appears to be unstable. Moreover, autoantibodies specific for Fibrillin-1 have been demonstrated in serum from SSc patients and TSK1 mice. In particular, a high frequency of anti-Fibrillin-1 was observed in Japanese patients with diffuse and limited scleroderma or CREST (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia) syndrome. Genetic studies in a Native American population with high prevalence of using microsatellite marker showed strong association between FBN1 haplotypes and SSc. Subsequently, studies of FBN1 single nucleotide polymorphisms (SNPs) demonstrated that certain FBN1 haplotypes were associated with SSc in both Native American and Japanese patients with limited scleroderma. Thus, FBN1 was sequenced in 22 Japanese SSc patients to ascertain the presence of any relevant mutations or SNPs. Sequence analysis revealed eight coding and 14 non-coding SNPs and other polymorphisms. Among them, a CT insertion in the 5'-untranslated region of exon A had a significant negative association with disease.
 ...
PMID:Association of 5'-untranslated region of the Fibrillin-1 gene with Japanese scleroderma. 1238 86

A 55-year-old man was admitted to our hospital with dyspnea on effort and sclerodactyly. The chest radiograph showed reticulonodular shadows in both lower lung fields. A diagnosis of systemic sclerosis was made based on the characteristic skin lesions, interstitial pneumonia and the positivity for anti-Scl-70 antibody. Surgical biopsies were performed, which showed various features characteristic of organizing pneumonia and non-specific interstitial pneumonia. Prednisolone and cyclophosphamide were given to the patient, but clinical symptoms and chest radiographic findings worsened. After cyclophosphamide was replaced with cyclosporine, his symptoms, chest radiographic findings and pulmonary function improved and stabilized. It is suggested that cyclosporine is useful for the treatment of progressive interstitial pneumonia associated with systemic sclerosis.
 ...
PMID:[Successful treatment with cyclosporine in a case of progressive interstitial pneumonia associated with systemic sclerosis]. 1293 77

Systemic sclerosis is a multisystem disorder characterized by abundant fibrosis of the skin, blood vessels, and visceral organs. Cranial nerve involvement is an uncommon feature of this connective tissue disorder, and when it occurs it is the trigeminal nerve that is primarily affected. We report an elderly woman who presented with sensorineural hearing loss and was then diagnosed with the CREST syndrome of progressive systemic sclerosis (calcinosis cutis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia). Involvement of the eighth cranial nerve with scleroderma and CREST syndrome is rare, but appears to be the cause of sensorineural hearing loss in our patient.
 ...
PMID:Cranial nerve VIII involvement in a patient with progressive systemic sclerosis. 1505 44


<< Previous 1 2 3 4 5 6 7 8 9 10