Epidermolysis Bullosa in an Infant Heterozygous for Mutation in LAMC2 Gene: A Case Report

Abstract

Epidermolysis bullosa is a heterogenous skin disease caused by genes associated with skin integrity and dermal–epidermal adhesion. The four main categories include: epidermolysis bullosa simplex, junctional epidermolysis bullosa, dystrophic epidermolysis bullosa, and kindler syndrome. We report the case of a one-month-old infant who was brought to the emergency department due to complaint of fever and a bullous exanthem. Skin cultures were positive for methicillin-sensitive Staphylococcus aureus and Escherichia coli. Whole exome sequencing revealed mutations in LAMC2 gene. Junctional epidermolysis bullosa is associated with poor prognosis. Healthcare professionals and parents should be educated in a specific way as patients with this condition are in need of special care.