A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa

Abstract

We report a case of neonatal generalized erythema and epidermolysis resulting from a novel mutation in the junctional plakoglobin gene causing truncation of the plakoglobin protein. Expedited genetic testing enabled diagnosis while the patient was in the neonatal intensive care unit, providing valuable information for the clinicians and family.

Keywords: Naxos syndrome; desmosome; junctional plakoglobin (JUP); lethal congenital epidermolysis bullosa; skin fragility; whole-exome sequencing.