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1/28. Pyloric atresia associated with epidermolysis bullosa, malrotation, and high anorectal malformation with recto-urethral fistula: a report of successful management.

    Pyloric atresia (PA) is an uncommon anomaly that may be associated with many other congenital anomalies, the commonest of which is junctional epidermolysis bullosa (JEB). Most of the cases of PA associated with JEB (Herlitz syndrome) reported have been fatal. A case of PA associated with JEB, malrotation, and a high anorectal malformation with a rectourethral fistula, which was hitherto undescribed, was successfully managed at our institution.
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2/28. Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.

    A general improvement with ageing has been reported in a few cases of epidermolysis bullosa with pyloric atresia (PA-JEB), an autosomal recessive skin disease characterized by extensive disadhesion of epithelia. In a patient who improved from severe to mild PA-JEB, a search for mutations in the integrin beta4 gene (IGTB4) detected heterozygosity for a novel base substitution 3986-19T-->A in the putative branchpoint sequence of intron 31, and a point mutation 3802 1G-->A in the donor splice site of intron 30 previously associated with severe PA-JEB. Analysis of mRNA showed that the intronic mutation prevents legitimate splicing of the beta4 pre-mRNA. Functional splicing can be restored in vitro by seeding the proband's keratinocytes on feeders of irradiated fibroblasts. Study of mRNA in wild-type keratinocytes transfected with IGTB4 minigenes containing intron 31 with or without mutation 3986-19T-->A, confirmed the causative role of the intronic mutation in PA-JEB, and highlighted the influence of feeders on the maturation process of the mutated beta4 pre-mRNA. Our results show that in a context of overall reduction of the beta4 mRNA levels, activation of the legitimate splice site in the aberrant beta4 pre-mRNA underlies the transient severity of the condition. The results also point to the relevance which the interaction between epithelial and stromal cells may have in modulating expression of integrin receptors.
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3/28. Outcome after surgical repair of junctional epidermolysis bullosa-pyloric atresia syndrome: a report of 3 cases and review of the literature.

    BACKGROUND: Junctional epidermolysis bullosa-pyloric atresia syndrome is recognized as a distinct autosomal recessive entity. Affected infants present with skin fragility and inability to feed due to intestinal obstruction. Despite successful surgical repair of the anatomical defect, the outcome is poor owing to poor feeding, malabsorption, failure to thrive, and sepsis. OBSERVATIONS: In 70 cases of intestinal obstruction and epidermolysis bullosa reported in the medical literature and the 3 reported here, surgical intervention was attempted 51 times. In all except 16 infants, death occurred before age 11 months (mean age, 70 days). Renal involvement and continued failure to thrive accompanied the skin disease in survivors, who ranged in age from 30 days to 16 years (mean age, 4.0 years). CONCLUSIONS: The poor prognosis of this condition must be considered when decisions are made regarding surgical correction. Attempting surgical correction may be warranted in individual circumstances, but withholding surgical intervention and providing palliative support is an acceptable alternative.
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4/28. prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk.

    Junctional epidermolysis bullosa with pyloric atresia (PA-JEB) is a highly lethal, inherited, autosomal recessive disease. Thus far, prenatal diagnosis of this syndrome was only realized on pregnancies at risk for recurrence. We report the case of a 26-year-old woman, first cousin to her husband, who had undergone amniocentesis for polyhydramnios. The karyotype was normal but the amniotic fluid contained acetylcholinesterase. A targeted scan at 25 weeks' gestation did not find spina bifida, but polyhydramnios with a dilated stomach, and several other anomalies: echogenic particles in the amniotic fluid, a thin skin which closely adhered to the nasal bones, narrow nostrils, abnormal ears, fisted hands, malposition of both first toes, and kidney malformation. Despite no previous case in the family, it was thought that sonographic findings were suggestive of the PA-JEB syndrome. A fetal skin biopsy was carried out at 28 weeks' gestation. The ultrastructural examination of fetal skin displayed JEB. Genetic analysis detected a homozygous mutation in the gene encoding integrin alpha 6. Termination of pregnancy was carried out at 29 weeks' gestation. These results illustrate that in the case of a fetus not known to be at risk, diagnosis of PA-JEB can be achieved by ultrasound findings leading to fetal skin biopsy and ultrastructural examination of blistered epidermis. Some new sonographic signs should raise the possibility of significant cutaneous desquamation and blister formation in a fetus, especially when there is positive amniotic acetylcholinesterase coupled with elevated alpha-fetoprotein or suspected pyloric atresia.
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5/28. Congenital pyloric atresia and junctional epidermolysis bullosa: a report of two cases.

    The association between epidermolysis bullosa (EB) and congenital pyloric atresia (CPA) is rare, but is known distinct clinical entity with autosomal recessive inheritance. The outcome of such an association was universally fatal. This is a report of two newborns with EB and CPA, associated with additional aplasia cutis congenita in one case. One patient was treated postoperatively with phenytoin and survived. Aspects of the diagnosis, pathogenesis, and management are also discussed.
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6/28. 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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7/28. Pyloric atresia: an attempt at anatomic pyloric sphincter reconstruction.

    BACKGROUND: The standard method of surgical correction of pyloric atresia is gastro-duodenostomy. The authors report a case of pyloric atresia associated with junctional epidermolysis bullosa, treated with a new technique of pyloric sphincter reconstruction by gastric and duodenal mucosa cul-de-sacs advancement and end-to-end anastomosis. methods: The patient was a premature 2,100-g baby girl. X-ray showed gastric dilatation suggesting a congenital gastric obstruction. At surgery a pyloric atresia was found, with the appearance of a well-vascularized solid cord about 1.5 cm long. By longitudinal pyloromyotomy the cul-de-sacs of gastric and duodenal mucosa were reached and then isolated in the respective gastric and duodenal sides to obtain better mobilization. The mucosal cul-de-sacs, thus mobilized, were advanced easily into the pyloric canal, opened longitudinally, and were sutured together using end-to-end anastomosis. The longitudinal pyloromyotomy then was closed diagonally above the reconstructed pyloric neocanal. RESULTS: The postoperative course was uneventful: oral feeding was started on the 11th postoperative day. At 4 year follow-up the child was well; no gastrointestinal disorders were present, confirmed by x-ray barium meal and by HIDA technetium Tc 99m hepatic scintiscan, which excluded any bilious duodeno-gastric reflux. CONCLUSION: This technique of pyloric sphincter reconstruction allows preservation of the pyloric sphincter, whose sphincter muscular layer, although hypoplastic, is present in cases of pyloric atresia.
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8/28. Junctional epidermolysis bullosa associated with congenital localized absence of skin, and pyloric atresia in two newborn siblings.

    Congenital localized absence of the skin has been observed in various subsets of inherited epidermolysis bullosa (EB). Pyloric atresia is a rare disorder that has been seen in association with EB. Ureterovesical junction obstruction is a condition unique to the association between pyloric atresia and EB. The authors describe 2 premature male siblings with pyloric atresia, congenital localized absence of the skin, urinary obstruction, and EB at birth. Electron microscopic study of the biopsy specimen from the first sibling revealed characteristic findings of EB simplex. However, prenatal diagnosis of the next sibling was made by integrin B4 mutations and the electron microscopic study of the biopsy specimen after delivery confirmed junctional EB (JEB). These cases emphasize this unusual combination of defects and limitations of electron microscopy.
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9/28. 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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10/28. The pyloric atresia-junctional epidermolysis bullosa syndrome. Report of a case and review of the literature.

    BACKGROUND AND methods--The concomitant occurrence of the two rare conditions of pyloric atresia (PA) and inherited epidermolysis bullosa (EB) is not as rare as would be expected. We collected 41 case reports in the world literature and add a personal case in which EB was investigated with modern methods and found to be a GB3-positive/non-Herlitz junctional variant. OBSERVATIONS--Our review of the PA-EB association discloses that it is an autosomal recessive inherited entity in which EB is of the junctional EB (JEB) subtype and PA is a primary manifestation rather than a scarring process secondary to JEB. The disease is thus better called "PA-JEB." patients with the PA-JEB syndrome present, not uncommonly, with erosions and/or subepithelial cleavage in the respiratory, gastrointestinal, and urinary tracts. In addition, certain facultative features are unique to PA-JEB, ie, obstruction of the ureterovesical junction and high incidence of a peculiar form of aplasia cutis congenita. CONCLUSION--The GB3 monoclonal antibody was found normally expressed in three of three cases, excluding the Gravis-Herlitz variant, in spite of an unmatching EB phenotype in one case. Further studies are needed to assess which of the JEB varieties are present in the PA-JEB syndrome.
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