Cases reported "Pyloric Stenosis"

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1/6. Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa.

    We report the occurrence of congenital nephrotic-range proteinuria secondary to focal segmental glomerulosclerosis in an infant with epidermolysis bullosa and pyloric atresia. A homozygous missense mutation, R1281W, in exon 31 of the beta4 integrin gene, ITGB4, was identified. By immunofluorescence, beta4 integrin expression was reduced in both dermal keratinocytes and glomerular podocytes. This is the first demonstration of beta4 integrin expression in human glomeruli. We postulate a role for altered beta4 integrin function in the mediation of the glomerular permeability defect.
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ranking = 1
keywords = epidermolysis bullosa, epidermolysis, bullosa
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2/6. Junctional epidermolysis bullosa with pyloric stenosis presenting with electron microscopic findings suggestive of epidermolysis bullosa simplex.

    We present an infant girl who was born with pyloric stenosis and epidermolysis bullosa (EB). Electron microscopy of a skin biopsy specimen showed findings suggestive of EB simplex, but immunofluorescence (IF) mapping of the same specimen established the diagnosis of junctional EB. Because electron microscopy findings may sometimes be misleading, an EB patient with pyloric stenosis and electron microscopy findings suggestive of EB simplex should have a biopsy specimen examined by immunofluorescence mapping, which may confirm that the patient in fact has junctional EB.
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ranking = 1.8
keywords = epidermolysis bullosa, epidermolysis, bullosa
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3/6. Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.

    Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) (MIM 226730) is an autosomal recessive disorder resulting from mutations in the genes encoding alpha 6 beta 4 integrin (ITGA6 and ITGB4). Clinically, it is characterized by mucocutaneous fragility and gastrointestinal atresia, which most commonly affects the pylorus. Additional features of JEB-PA include involvement of the urogenital tract, aplasia cutis and failure to thrive. While most affected individuals have a poor prognosis resulting in death in infancy, others have milder clinical features and a better prognosis. We report two previously undescribed homozygous ITGB4 mutations in two unrelated families, which resulted in severe skin blistering, pyloric atresia and lethality in infancy. Delineation of the mutations was used to undertake dna-based prenatal diagnosis in subsequent pregnancies at risk for recurrence in both families. We review all previously published ITGA6 and ITGB4 mutation reports to help define genotype--phenotype correlation in this rare genodermatosis.
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ranking = 1
keywords = epidermolysis bullosa, epidermolysis, bullosa
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4/6. Junctional epidermolysis bullosa lethalis with pyloric and anorectal obstruction.

    The authors present a case of epidermolysis bullosa lethalis (EBL) associated with a double obstruction, one at the pyloric and the other in the anorectal region. Both obstructions could be due to separation of the rectal mucosa during intrauterine life followed by adhesive closure of its wall. Both the gastrointestinal lesions could be part of the generalized denudation process involved in EBL.
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ranking = 1
keywords = epidermolysis bullosa, epidermolysis, bullosa
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5/6. Epidermolysis bullosa letalis associated with congenital pyloric atresia.

    A 32-week-old (gestational age) female infant with epidermolysis bullosa letalis (EBL) (confirmed by light and electron microscopy) had a gastric-outlet obstruction on routine roentgenographic examination. An autopsy showed a fibrous cord connecting the stomach and first part of the duodenum in the area of the pylorus. A review of the literature indicated 12 additional cases of epidermolysis bullosa (EBL where type was confirmed) associated with pyloric atresia. The possibility of coexistent pyloric atresia should be considered in a newborn who has suspected EBL.
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ranking = 0.44589512111472
keywords = epidermolysis bullosa, epidermolysis, bullosa
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6/6. Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia.

    Pyloric atresia associated with junctional epidermolysis bullosa (PA-JEB), is a rare inherited disorder characterized by pyloric stenosis and blistering of the skin as primary manifestations. We demonstrate that in one PA-JEB patient the disease resulted from two distinct mutations in the beta 4 integrin gene alleles. The paternal mutation consists of a one base pair deletion causing a shift in the open reading frame, and a downstream premature termination codon. The maternal mutation occurs in a donor splice site, and results in in-frame exon skipping involving the cytoplasmic domain of the polypeptide. Our results implicate mutations in the beta 4 integrin gene in some forms of PA-JEB.
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ranking = 1
keywords = epidermolysis bullosa, epidermolysis, bullosa
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