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

A case of pediatric progressive systemic sclerosis is reported and a literature review concerning medical and dental aspects of this condition is provided. Systemic features include sclerodactyly, Raynaud's phenomenon, telangiectasia, calcinosis, myositis, arthritis, tenosynovitis, renal failure, esophageal hypomotility, pulmonary fibrosis and heart failure. Oral manifestations include reduced interincisal distance, xerostomia, telangiectasia, increased periodontal ligament width, osseous resorption of the mandible, periodontal disease, and increased decayed, missing, and filled teeth (DMFT). The prognosis is difficult to predict because spontaneous remission has been documented, but death may result from extensive visceral involvement (heart, kidney, and lung).
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PMID:Progressive systemic sclerosis in a child: case report. 824 4

A 56-year-old man was admitted to the nephrology unit with a short (6-week) history of severe hypertension that necessitated renal replacement therapy within 7 days after admission. Renal biopsy showed features of thrombotic microangiopathy in arterioles and small arteries with occluding thrombi. The skin was unremarkable at the time of admission. Progressive skin lesions with scleroderma, telangiectasia, sclerodactyly, and generalized cutaneous sclerosis developed within 4 weeks and the specific skin changes were found on skin biopsy. On admission antinuclear antibody titers were high (1:10, 240) with a nucleolar pattern, and PM-Scl antibodies (1:5, 120) were present. In the present case the diagnosis of scleroderma renal crisis was made in vivo by renal biopsy. Renal and skin biopsies documented that renal lesions may precede the clinically manifest skin lesions of progressive systemic sclerosis.
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PMID:Scleroderma renal crisis as a presenting feature in the absence of skin involvement. 832 94

Previous cytogenetic studies of patients with systemic sclerosis have obtained conflicting results regarding the presence of chromosomal anomalies. We studied 38 patients and 15 controls to determine whether these inconsistencies were due to differences in the subgroups of patients who were studied. Because many patients with systemic sclerosis produce autoantibodies to protein antigens that have been implicated in chromosome structure and function, we further hypothesized that the presence of these autoantibodies might correlate with the presence of chromosomal anomalies. Patients were classified into clinical subgroups based on the extent of their disease. Their sera were assayed for autoantibodies to topoisomerase I and centromere proteins (CENP-A, CENP-B, and CENP-C) by immunoblotting. Cytogenetic analyses for aneuploidy and chromosome breaks were performed. Anticentromere antibody positive (ACA+) patients had significantly more aneuploidy than either ACA negative (ACA-) patients or controls (P = 0.041). Although the patient group, when considered as a whole, had significantly greater aneuploidy than the control group (P < 0.005), patients who were ACA--did not have more aneuploidy than the controls had. Patients with Type I disease (sclerodactyly), the majority of whom were ACA+, also had significantly more aneuploidy than did either the controls or patients with Type III (diffuse) disease, most of whom were ACA- (P < 0.005). ACA+ patients also had more chromatid breaks than the controls had (P < 0.05). The correlation between the presence of ACAs and chromosomal aneuploidy suggests that aneuploidy may be the result of nondisjunction secondary to centromeric dysfunction. In support of this hypothesis, the ACA+ patients who had antibodies to CENP-C exhibited more chromosomal aneuploidy than did either anti-CENP-A or anti-CENP-B positive patients (P < 0.048). Unlike CENP-A and CENP-B, which are present at both functional and inactivated centromeres, CENP-C is present at the kinetochore of functional centromeres.
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PMID:Cytogenetic survey in systemic sclerosis: correlation of aneuploidy with the presence of anticentromere antibodies. 838 18

Videograph images of nail fold capillaries in patients with Raynaud's phenomenon were analyzed, and capillary patterns were defined using standardized canonical discriminant analysis. Of sixty-eight patients with Raynaud's phenomenon, forty-nine (72 percent) showed a systemic sclerosis pattern and nineteen (28 percent) showed a normal pattern. The systemic sclerosis type capillary pattern significantly correlated not only with secondary Raynaud's syndrome but also with sclerodactyly, telangiectasia, and antinuclear antibody. This study confirms the value of nail fold capillary microscopy as a noninvasive technique for the examination of the cutaneous microcirculation in vivo. We should continue to evaluate the patients with Raynaud's phenomenon who showed systemic sclerosis pattern abnormality to determine if these patients would show a progression to systemic sclerosis or not.
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PMID:Image analysis of nail fold capillaries in patients with Raynaud's phenomenon. 857 20

After the skin, the gastrointestinal tract is the most frequently affected organ in systemic sclerosis. Gastrointestinal symptoms already may be present early in the course of the disease and do not necessarily correlate with objective findings. Esophageal dysmotility is not specific for systemic sclerosis but occurs in other connective tissue diseases as well. Peripheral macrovascular disease was shown to be increased in patients with limited cutaneous sclerosis; signs of autonomic dysfunction were found in patients with the CREST (calcinosis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia) variant. Pulmonary involvement was shown to be moderately or severely decreased in 40% of a large cohort of scleroderma patients. In one study, no support was found for the association between pulmonary involvement and gastroesophageal reflux. Peripheral nerve involvement is often subclinical and might be associated with anti-U1-RNP and anti-topoisomerase I antibodies. Internal organs are seldomly affected in localized scleroderma. When occurring in childhood and involving an extremity, localized scleroderma can cause growth failure, resulting in long-term functional disability.
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PMID:Clinical aspects of systemic and localized scleroderma. 857 77

We report a case of secondary antiphospholipid syndrome (APS) occurring in a progressive systemic sclerosis (PSS) patient who took herbal medication. Clinical findings compatible with APS included positive IgM anticardiolipin antibody (ACL), thrombocytopenia, and obstruction of the left radial artery on digital subtraction angiography (DSA). Clinical findings compatible with PSS included sclerodactyly and digital ulcers, Raynaud's phenomenon, pulmonary fibrosis and pulmonary hypertension, proteinuria and renal mesangial reaction, and myocarditis.
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PMID:Antiphospholipid syndrome associated with progressive systemic sclerosis. 867 27

A 14-year-old boy presented with Type I diabetes mellitus and subsequently developed pancreatic exocrine insufficiency and systemic sclerosis (SSc). His diabetes had been diagnosed when he was about 5 years old, after the onset of ketoacidosis. Insulin treatment was provided from then until the time he was treated in our department. Exocrine pancreatic insufficiency, which occurred at age 9, was treated with pancreatic extracts. Cystic fibrosis was excluded after a chloride sweat test. The diagnosis of SSc was confirmed at age 14 on the basis of skin sclerosis, sclerodactyly and oesophageal and pulmonary involvement and then at age 18 by the occurrence of Raynaud's disease. Thus, this patient demonstrated a rare and previously unreported association of Type I diabetes mellitus and systemic scleroderma. Limited joint mobility and skin abnormalities are frequent in childhood diabetes mellitus but should not be misdiagnosed as systemic scleroderma.
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PMID:Case report: insulin-dependent diabetes mellitus in childhood associated with scleroderma. 869 7

Two patients with scleroderma (systemic sclerosis, SSc) and chronic blood loss secondary to gastric vascular ectasia--"watermelon stomach"--are presented. These cases exemplify the condition of gastric vascular ectasia and highlight the increasingly recognized association with autoimmune antibodies and connective tissue disease such as SSc. In both cases the onset of gastric blood loss coincided with the clinical manifestations of sclerodactyly by months, suggesting some temporal relationship. Although a number of different treatment modalities are available, and discussed in this report, both cases required gastrectomy.
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PMID:Scleroderma and watermelon stomach. 873 Jan 46

All forms of scleroderma are rare in childhood. The most common form in childhood is localized scleroderma, which may take the form of morphea or linear scleroderma. Localized scleroderma is often benign but may cause significant deformity if it occurs on the face or extends across joint surfaces. Progressive systemic sclerosis is much less frequent in childhood but may have a rapidly progressive and ultimately fatal course. CREST (calcinosis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, and telangieactasia) syndrome also may occur in childhood with manifestations similar to those seen in adults. In addition, some children in whom mixed connective tissue disease is initially diagnosed ultimately develop progressive systemic sclerosis. Research into both the causes and the optimal therapy for childhood scleroderma is hampered by the small number of patients treated at individual centers. This limitation has made it difficult to perform well-controlled studies.
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PMID:Systemic and localized scleroderma in children. 901 62

A rare case of systemic sclerosis that preceded the development of diabetes insipidus is reported. This 25-year-old man presented with Raynaud's phenomenon and ulceration of the tip of the right thumb. The diagnosis of systemic sclerosis was based on findings of proximal scleroderma, sclerodactyly, serological abnormalities, and skin abnormalities verified histologically. Partial central diabetes insipidus was later diagnosed after the sudden appearance of polyuria and polydipsia. Coexistence of systemic sclerosis with diabetes insipidus suggests that diabetes insipidus in this patient might have occurred via an autoimmune mechanism.
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PMID:Systemic sclerosis associated with diabetes insipidus. 905 7


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