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11/90. mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa.

    uniparental disomy denotes a situation when an individual has inherited two copies of a specific chromosome from a single parent. uniparental disomy has been demonstrated to be involved in the pathogenesis of recessively inherited diseases in rare cases. Here we report a patient of Japanese origin with Herlitz junctional epidermolysis bullosa (OMIM no. 226700), who died at the age of 8 mo from complications of the disease. The mutation analysis revealed that the proband was homozygous for a nonsense mutation C553X in the LAMC2 gene encoding the gamma2 chain of laminin 5. The father was a heterozygous carrier of this mutation whereas the mother had two normal alleles of this gene. The patient showed homozygosity for 15 known intragenic polymorphisms in the LAMC2 gene. Furthermore, genotype analysis, performed from the parents and the proband, using 16 microsatellite markers spanning the entire chromosome 1, revealed that the patient was homozygous for all markers tested, and that these alleles originated from the father. Among the 16 markers, eight were fully informative for the absence of the maternal chromosome 1 in the proband, suggesting that the patient had complete paternal isodisomy of this chromosome. Thus, the Herlitz junctional epidermolysis bullosa phenotype in this patient is caused by homozygous LAMC2 mutation C553X that is of paternal origin and results from nondisjunction and uniparental disomy involving monosomy rescue. This is a novel mechanism resulting in Herlitz junctional epidermolysis bullosa and has implications for assessment of the risk in subsequent pregnancies.
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ranking = 1
keywords = epidermolysis bullosa, epidermolysis, bullosa
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12/90. 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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ranking = 0.14285714285714
keywords = epidermolysis bullosa, epidermolysis, bullosa
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13/90. 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 = 1.2857142857143
keywords = epidermolysis bullosa, epidermolysis, bullosa
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14/90. 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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ranking = 0.71428571428571
keywords = epidermolysis bullosa, epidermolysis, bullosa
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15/90. Non-Herlitz junctional epidermolysis bullosa without hair involvement associated with BP180 deficiency.

    Junctional epidermolysis bullosa (JEB) is a clinically and genetically heterogeneous recessively inherited blistering disease of the skin and mucous membranes due to impaired epithelial adhesion. In particular, defective expression of the 180-kD bullous pemphigoid antigen (BP180) has been correlated to a non-lethal (non-Herlitz) form of JEB, generalized atrophic benign epidermolysis bullosa (GABEB), characterized by widespread skin blistering healing with atrophy and by atrophic alopecia with onset in childhood. We report the case of a 33-year-old man suffering from a generalized blistering skin disorder since birth. He also presented nail dystrophy and tooth abnormalities. Mucosal involvement was limited to gingival erosion. alopecia was absent and body, axillary and pubic hair were normal. Immunofluorescence analysis showed a markedly reduced expression of BP180, electron microscopy studies evidenced hypoplastic hemidesmosomes and Northern blot analysis confirmed a striking decrease in the amount of BP180 mRNA. The clinical features of our patient confirm that BP180 deficiency usually results in a non-Herlitz JEB form. However, the degree of skin, mucous membranes and hair involvement appears more variable and less typical than originally described for GABEB.
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ranking = 0.85714285714286
keywords = epidermolysis bullosa, epidermolysis, bullosa
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16/90. 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 = 0.71428571428571
keywords = epidermolysis bullosa, epidermolysis, bullosa
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17/90. dna based molecular analysis in the rapid diagnosis of Herlitz junctional epidermolysis bullosa.

    The junctional form of epidermolysis bullosa (JEB) is an inherited blistering disease in which blisters occur at the level of the lamina lucida in the cutaneous basement membrane zone. Specific mutations have been detected in the genes encoding different components of the hemidesmosomal-anchoring filament complex. In the recessively inherited lethal (Herlitz) type of JEB (H-JEB), typically nonsense mutations or insertions or deletions are present on both alleles of any of the three genes encoding the polypeptide subunits of the anchoring filament protein, laminin 5. In this study, we searched for mutations in a proband who presented at birth with severe and extensive blistering. We detected a novel 1 bp deletion and a previously reported hotspot mutation (R635X) in the LAMB3 gene. This mutation combination established the diagnosis of H-JEB in this case, in which attempted diagnosis by skin biopsy had failed. The molecular analysis was performed shortly after birth while the patient was admitted to the intensive care unit, and the definitive molecular diagnosis allowed the parents and physicians to devise management plans.
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ranking = 0.71428571428571
keywords = epidermolysis bullosa, epidermolysis, bullosa
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18/90. Normal expression of the 19-DEJ-1 epitope in two siblings with late-onset junctional epidermolysis bullosa.

    We describe two siblings with late-onset junctional epidermolysis bullosa (JEB) (formerly called epidermolysis junctionalis progressiva). This is a subtype of autosomal recessive JEB characterized by late onset of the symptoms, between the ages of 5 and 8 years. The symptoms are mechanobullous lesions preferentially situated on hands and feet, nail dystrophy, loss of dermatoglyphic pattern, tooth enamel abnormalities and hyperhidrosis. In most forms of JEB a reduction or absence of a specific hemidesmosomal component can be demonstrated by means of immunohistochemical analysis. In this family, all known involved hemidesmosomal components, including uncein, recognized by the monoclonal antibody 19-DEJ-1, appeared to be normally expressed.
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ranking = 0.7526252679235
keywords = epidermolysis bullosa, epidermolysis, bullosa
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19/90. Herlitz junctional epidermolysis bullosa presenting at birth with anonychia: a case report and review of H-JEB.

    A 15-day-old Yemeni boy presented with anonychia and granulomatous nail beds and white patches in the mouth. biopsy specimens from the nail beds were nondiagnostic. Shortly thereafter the child developed multiple tense bullae, a hoarse voice, and poor appetite. hematoxylin and eosin staining along with monoclonal antibody studies of a skin biopsy specimen revealed subepidermal bullae through the lamina lucida and a marked decrease in laminin 5. A diagnosis of junctional epidermolysis bullosa Herlitz variant was made. His course was complicated by multiple nonhealing wounds, oral pharyngeal involvement, sepsis, anemia, and poor nutrition, leading to his eventual death. This report emphasizes the unusual presentation of Herlitz junctional epidermolysis bullosa with anonychia as the initial finding and a relatively prolonged period before cutaneous blister formation, resulting in delay of diagnosis.
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ranking = 0.85714285714286
keywords = epidermolysis bullosa, epidermolysis, bullosa
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20/90. Junctional epidermolysis bullosa gravis (Herlitz): diagnostic and genetic aspects.

    We report on a boy suffering from lethal junctional epidermolysis bullosa gravis (JEBH) (Herlitz-type) (OMIM 226700). Screening for mutations of LAMB3 gene with polymerase chain reaction (PCR) amplification of all exons from genomic dna and subsequent heteroduplex analysis and dideoxynucleotide sequencing of heteroduplex forming PCR products disclosed two mutations: the recurrent maternal mutation R635X and the novel paternal mutation 1629insG, both in exon 14 of LAMB3. Both mutations lead to a premature termination code, non-sense mediated mRNA decay and to absence of the synthesis of the beta3 chain of laminin 5. During the mutation screening of the index patient a second pregnancy was ascertained. After amniocentesis (14 1 week of pregnancy), prenatal diagnosis from fetal cells was performed and compound heterozygosity for both mutations was evident. The consultants decided to have a termination of pregnancy shortly after the diagnosis. Remarkable skin fragility of the fetus was evident by clinical examination. Complete absence of laminin 5 could be demonstrated by immunofluorescence staining. By the third pregnancy of this couple so far screened for mutations by chorionic villus sampling for prenatal molecular diagnosis a healthy but heterozygous child is expected.
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ranking = 0.71428571428571
keywords = epidermolysis bullosa, epidermolysis, bullosa
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