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1/90. Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation.

    Generalized atrophic benign epidermolysis bullosa is an autosomal recessive subepidermal blistering disease typified by null mutations in COL17A1. In 1 large kindred, affected individuals were homozygous for a 2-bp deletion in COL17A1, 4003delTC, which resulted in a downstream premature termination codon, nonsense-mediated mRNA decay, and abrogation of type XVII collagen synthesis. Interestingly, 1 of these patients, although phenotypically identical to her affected siblings, showed focal expression of type XVII collagen in epidermal basement membrane in a pattern suggestive of revertant mosaicism. When studies of randomly obtained epidermal, oromucosal, and peripheral blood cells failed to identify the genetic basis of this apparent mosaicism, microscopic subpopulations of potentially revertant epidermal cells (i.e., those overlying basement membrane containing type XVII collagen) were selectively isolated using laser capture microdissection. Analysis of dna and rna from these cells revealed a second mutation, 4080insGG, on 1 allele of COL17A1. This 2-bp insertion corrected the reading frame just proximal to the premature termination codon, countered nonsense-mediated mRNA decay, and allowed protein production by patient keratinocytes in vivo and in vitro. These studies elucidate the molecular basis of a novel form of revertant mosaicism in humans.
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ranking = 1
keywords = epidermolysis bullosa, epidermolysis, bullosa
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2/90. 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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ranking = 5
keywords = epidermolysis bullosa, epidermolysis, bullosa
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3/90. 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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ranking = 5
keywords = epidermolysis bullosa, epidermolysis, bullosa
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4/90. Generalized atrophic benign epidermolysis bullosa: a case of severe hemidesmosomal deficiency.

    A case of generalized atrophic benign epidermolysis bullosa was followed from birth to 14 years of age. Electron microscopy of the blistered skin showed either the absence or greatly reduced hemidesmosomes of a very poorly developed type. In perilesional skin, the frequency of hemidesmosomes was 1/3 to 1/2 of the normal controls. These hemidesmosomes were small and lacked normal ultrastructures. Anchoring filaments did not cluster underneath them, and the anchoring fibrils were also diminished. In view of the published data correlating the genotype to the phenotype, this patient seems to have a homozygous nonsense mutation of the COL17A1 gene encoding collagen XVII. An accumulation of data may eventually enable electron microscopists to estimate the types of gene mutation.
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ranking = 5
keywords = epidermolysis bullosa, epidermolysis, bullosa
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5/90. 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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ranking = 6
keywords = epidermolysis bullosa, epidermolysis, bullosa
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6/90. pain management of junctional epidermolysis bullosa in an 11-year-Old boy.

    epidermolysis bullosa is a group of hereditary blistering disorders for which there is no definitive therapy. Wound care is an important component of management. Regular dressing changes are required to protect blistered and eroded skin, and to prevent secondary infection and sepsis. These dressing changes can be very painful for patients with extensive erosions. We report our experience of pain management in an 11-year-old boy with severe junctional epidermolysis bullosa. Amitryptiline and cognitive behavioral techniques were effective in relieving chronic pain and discomfort. Oral midazolam 0.33 mg/kg administered 20 minutes prior to baths and dressing changes substantially improved his tolerance of wound care.
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ranking = 5.0702464849014
keywords = epidermolysis bullosa, epidermolysis, bullosa
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7/90. 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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ranking = 5
keywords = epidermolysis bullosa, epidermolysis, bullosa
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8/90. Molecular and fetal tissue biopsy capabilities are needed to maximize prenatal diagnosis of junctional epidermolysis bullosa: fetal skin biopsy using a 1-mm microendoscope.

    OBJECTIVE: To describe a minimally invasive micro-endoscopic technique for fetal skin biopsy and direct examination for a lethal skin condition. MATERIALS AND methods: Direct fetoscopic examination of a fetus was undertaken along with full thickness skin biopsies at 19 weeks' gestation. RESULTS: No phenotypic expressions of the lethal condition were visualized and six full thickness skin biopsies were collected. Pathological examination revealed normal skin structures not consistent with junctional epidermolysis bullosa (JEB). CONCLUSION: Minimally invasive examination with the 1 mm endoscope allows direct fetal phenotypic evaluation, full thickness skin biopsies, with risks similar to amniocentesis.
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ranking = 5
keywords = epidermolysis bullosa, epidermolysis, bullosa
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9/90. 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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ranking = 5
keywords = epidermolysis bullosa, epidermolysis, bullosa
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10/90. 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 = 5
keywords = epidermolysis bullosa, epidermolysis, bullosa
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