Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa

J. E. Mellerio, J. E. Denyer, D. J. Atherton, R. A.J. Eady, J. A. McGrath

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10 引文 斯高帕斯(Scopus)

摘要

Epidermolysis bullosa (EB) in neonates is often difficult to characterize, both in terms of making a precise diagnosis and in being able to comment accurately on the prognosis for the affected child. We present a case of a neonate with inherited mucocutaneous fragility and failure to thrive and detail our laboratory approach for classifying the subtype of EB in this child. Mutational analysis revealed a homozygous non-sense mutation in the gene encoding the 180 kDa bullous pemphigoid antigen, also known as type XVII collagen, predicting a non-lethal form of junctional EB. Identification of the underlying molecular pathology in this case was of use in improving diagnosis, classification, management and counselling.

原文English
頁(從 - 到)661-666
頁數6
期刊British Journal of Dermatology
138
發行號4
DOIs
出版狀態Published - 1998

All Science Journal Classification (ASJC) codes

  • 皮膚科

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