Junctional Epidermolysis Bullosa in a 30-day-old Infant: A Case Report

Abstract

Epidermolysis bullosa is a group of hereditary mechanobullous disorders which are associated with appearance of bullae secondary to physical stress like heat or mechanical trauma or sometimes without any trigger. There are four major subtypes: Epidermolysis Bullosa Simplex (EBS), Junctional Epidermolysis Bullosa (JEB), Dystrophic Epidermolysis Bullosa (DEB) and Kindler syndrome. Diagnosis is by skin biopsy histopathology, immunofluorescence staining and genetic testing. The treatment is mainly supportive consisting of avoiding trauma, good skin care and careful wound management. A rare case of JEB in an infant is being presented here. A 30-day-old male child presented with fluid filled blisters and multiple raw areas over the fingers, buttocks, legs, scalp and elbow. Nail changes were also present. Crusting was present over some lesions. Skin histopathological and immunofluorescence studies were done. Final diagnosis of JEB was made and patient was managed with supportive management. Minimal handling and strict asepsis were advised to the parents. The patient was discharged and prognosis was explained to them. The child was not brought for regular follow-up and he died at four months of age.