Pyloric Atresia Associated with Epidermolysis Bullosa: A Report of 4 Survivals in 5 Cases

Iranian Journal of Pediatrics 01/2007; 17.
Source: DOAJ

ABSTRACT Objective: Pyloric atresia (PA) is a rare congenital anomaly that constitutes approximately 1% of allintestinal atresias, and its incidence is approximately 1 in 100,000 live births. PA may occur as anisolated condition or associated with other abnormalities, the most common being Junctionalepidermolysis bullosa (EB). Evidence suggests that PA-EB is a distinct entity. In this report, wepresent 5 cases of pyloric atresia associated with Junctional epidermolysis bullosa, 4 of whomsurvived after surgery.Cases Presentation: Prospective evaluation of 5 patients with pyloric atresia associated withEpidermolysis bullosa undergoing therapeutic surgery. Biopsy of the fresh bulla was compatible withJunctional EB in all 5 patients. All patients underwent laparatomy after stabilization. Four neonatesunderwent gastroduodenostomy, and one patient had excision of membrane and pyloroplasty. Out of5 neonates, 4 survive and one died from fulminant septicemia 12 days after operation.Conclusion: Although association of PA with EB has been reported to be fatal, recently there havebeen encouraging reports of survival among these patients. These 5 patients underwent surgery andsurvived, and are doing well on follow up.

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Available from: Alireza Alam, Sep 27, 2015
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    ABSTRACT: 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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    ABSTRACT: The epidermolysis bullosa-pyloric atresia-obstructive uropathy (EB-PA-OU) association is a rare, but well-described multisystem disease. While the prognosis at this time is still poor, an increasing number of patients are surviving to adolescence with aggressive care. It is important to understand this syndrome in order to anticipate medical complications and offer preventive strategies where possible. Prompt and expectant management of obstructive uropathy is crucial in these patients. Evidence of ureterovesicular obstruction may require bowel diversion, as excision of the obstructed ureterovesicular junction with reimplantation is often associated with a high risk of reobstruction. Many newborns succumb to sepsis or dehydration and electrolyte imbalance. Those infants who survive need close monitoring for the development of obstructive uropathy, failure to thrive, protein-losing enteropathy, respiratory compromise, and increased susceptibility to invasive infections. Once a clinical diagnosis is made, mutational analysis can confirm it and facilitate genetic counseling, as recurrence risks are 25% for this autosomal recessive condition. Mutational analysis enables direct genetic testing and accurate prenatal diagnosis. As more patients are studied, genotype/phenotype correlations may be possible.
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    ABSTRACT: Great progress has recently been made in understanding the molecular basis of various heritable skin diseases. A prototype of such conditions is epidermolysis bullosa (EB), a heterogeneous group of mechano-bullous disorders characterized by fragility of the skin and other specialized epithelia. Blistering of the skin in EB results either from fragility of epidermal cells or from defective attachment of the epidermis to the underlying dermis, because of genetic lesions within molecules of the basement-membrane zone at the dermal-epidermal junction. Distinct mutations have been discovered in ten different genes encoding the structural components within this layer. The combinations and the types of mutations, as well as their positions in the altered gene products, collectively reflect the phenotypic variability observed in this group of heritable skin diseases.
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