title: Prognostic implications of determining 180 kDa bullous pemphigoid antigen (BPAG2) gene/protein pathology in neonatal junctional epidermolysis bullosa.
abstract: 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.
authors.affiliation: Department of Cell Pathology, St John's Institute of Dermatology (UMDS), St Thomas' Hospital, London, U.K.
authors.forename: J E
authors.initials: JE
authors.lastname: Mellerio
authors.forename: J E
authors.initials: JE
authors.lastname: Denyer
authors.forename: D J
authors.initials: DJ
authors.lastname: Atherton
authors.forename: R A
authors.initials: RA
authors.lastname: Eady
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
mesh_terms: D001324:Autoantigens / Q000235:genetics*; D002352:Carrier Proteins; D003094:Collagen; D003598:Cytoskeletal Proteins; D000071821:Dystonin; D016109:Epidermolysis Bullosa, Junctional / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D019084:Fluorescent Antibody Technique, Indirect; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D009419:Nerve Tissue Proteins; D024041:Non-Fibrillar Collagens; D010375:Pedigree; D011379:Prognosis; D000097805:Collagen Type XVII
chemical_list: D001324:Autoantigens; D002352:Carrier Proteins; D003094:Collagen; D003598:Cytoskeletal Proteins; D000071821:Dystonin; D009419:Nerve Tissue Proteins; D024041:Non-Fibrillar Collagens; D000097805:Collagen Type XVII; C486268:DST protein, human