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Lethal junctional epidermolysis bullosa with normal expression of BM 600 and antro-pyloric atresia: a new variant of junctional epidermolysis bullosa?
Eur J Pediatr. 1992 Apr; 151(4):252-7.EJ

Abstract

A newborn girl is described with a lethal junctional epidermolysis bullosa (Herlitz form) (JEB) associated with a congenital localized absence of skin, and a pyloric atresia (PA). The post-mortem examination of the digestive tract showed a widespread cleavage between the epithelium and the chorion. Immunohistological and electron microscopical examination showed a cleavage occurring through the lamina lucida of the digestive basement membrane, as for the skin blisters. Despite the lethal character of this form of JEB, the BM 600 glycoprotein was normally recognized at the dermo-epidermal junction by the monoclonal antibody GB3. This rare association of lethal JEB-PA-localized absence of skin, with a quite unusual GB3 positive immunophenotype could correspond to a new variant of JEB.

Authors+Show Affiliations

Lacour JP
Department of Dermatology, Hospital Pasteur, Nice, France.
Hoffman P
No affiliation info available
Bastiani-Griffet F
No affiliation info available
Boutte P
No affiliation info available
Pisani A
No affiliation info available
Ortonne JP
No affiliation info available

MeSH

Antibodies, MonoclonalEpidermolysis Bullosa, JunctionalFemaleGene ExpressionHumansImmunophenotypingInfant, NewbornMembrane GlycoproteinsMicroscopy, ElectronPyloric AntrumPylorusSkin

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1499575

Citation

Lacour, J P., et al. "Lethal Junctional Epidermolysis Bullosa With Normal Expression of BM 600 and Antro-pyloric Atresia: a New Variant of Junctional Epidermolysis Bullosa?" European Journal of Pediatrics, vol. 151, no. 4, 1992, pp. 252-7.
Lacour JP, Hoffman P, Bastiani-Griffet F, et al. Lethal junctional epidermolysis bullosa with normal expression of BM 600 and antro-pyloric atresia: a new variant of junctional epidermolysis bullosa? Eur J Pediatr. 1992;151(4):252-7.
Lacour, J. P., Hoffman, P., Bastiani-Griffet, F., Boutte, P., Pisani, A., & Ortonne, J. P. (1992). Lethal junctional epidermolysis bullosa with normal expression of BM 600 and antro-pyloric atresia: a new variant of junctional epidermolysis bullosa? European Journal of Pediatrics, 151(4), 252-7.
Lacour JP, et al. Lethal Junctional Epidermolysis Bullosa With Normal Expression of BM 600 and Antro-pyloric Atresia: a New Variant of Junctional Epidermolysis Bullosa. Eur J Pediatr. 1992;151(4):252-7. PubMed PMID: 1499575.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Lethal junctional epidermolysis bullosa with normal expression of BM 600 and antro-pyloric atresia: a new variant of junctional epidermolysis bullosa? AU - Lacour,J P, AU - Hoffman,P, AU - Bastiani-Griffet,F, AU - Boutte,P, AU - Pisani,A, AU - Ortonne,J P, PY - 1992/4/1/pubmed PY - 1992/4/1/medline PY - 1992/4/1/entrez SP - 252 EP - 7 JF - European journal of pediatrics JO - Eur J Pediatr VL - 151 IS - 4 N2 - A newborn girl is described with a lethal junctional epidermolysis bullosa (Herlitz form) (JEB) associated with a congenital localized absence of skin, and a pyloric atresia (PA). The post-mortem examination of the digestive tract showed a widespread cleavage between the epithelium and the chorion. Immunohistological and electron microscopical examination showed a cleavage occurring through the lamina lucida of the digestive basement membrane, as for the skin blisters. Despite the lethal character of this form of JEB, the BM 600 glycoprotein was normally recognized at the dermo-epidermal junction by the monoclonal antibody GB3. This rare association of lethal JEB-PA-localized absence of skin, with a quite unusual GB3 positive immunophenotype could correspond to a new variant of JEB. SN - 0340-6199 UR - https://www.unboundmedicine.com/medline/citation/1499575/Lethal_junctional_epidermolysis_bullosa_with_normal_expression_of_BM_600_and_antro_pyloric_atresia:_a_new_variant_of_junctional_epidermolysis_bullosa DB - PRIME DP - Unbound Medicine ER -