PROGNOSTIC IMPLICATIONS OF DETERMINING 180 KDA BULLOUS PEMPHIGOID ANTIGEN (BPAG2) GENE PROTEIN PATHOLOGY IN NEONATAL JUNCTIONAL EPIDERMOLYSIS-BULLOSA/

Epidermolysis bullosa (EB) in neonates is often difficult to character ize, 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 failur e to thrive and detail our laboratory approach for classifying the sub type of EB in this child. Mutational analysis revealed a homozygous no n-sense mutation in the gene encoding the 180 kDa bullous pemphigoid a ntigen, also known as type XVII collagen, predicting a non-lethal form of junctional EB, Identification of the underlying molecular patholog y in this case was of use in improving diagnosis, classification, mana gement and counselling.