Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa
✍ Scribed by Mellerio; Denyer; Atherton; Eady; Mcgrath
- Book ID
- 104458670
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 559 KB
- Volume
- 138
- Category
- Article
- ISSN
- 0007-0963
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✦ Synopsis
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.