Management of Refractory Infections in a Neonate With Severe Generalized Epidermolysis Bullosa Simplex: A Case Report

TL;DR

This case report describes a neonate with a rare skin condition and recurring infections, highlighting the challenges in managing such cases.

Contribution

The report provides insights into managing refractory infections in a neonate with severe generalized epidermolysis bullosa simplex.

Findings

The neonate had a confirmed KRT5 gene mutation associated with severe generalized epidermolysis bullosa simplex.

The neonate experienced recurrent bacteremia caused by MSSA, Pseudomonas aeruginosa, and Enterococcus faecalis.

Management of infections in this patient was challenging due to the fragile skin condition.

Abstract

A female neonate, the second child of non-consanguineous parents without a family history of similar disease, was born with erosions and small blisters on the perioral area, oral cavity, and digits, along with a large blister on the buttocks. Epidermolysis bullosa (EB) was suspected, and she was referred to our hospital on the day of birth. Skin biopsy from the right upper arm revealed histopathological clefting at the dermoepidermal junction, and electron microscopy demonstrated intraepidermal blister formation with keratin aggregates. Genetic analysis confirmed a p.Asn176Ile mutation in the KRT5 gene, and, based on the clinical presentation, a diagnosis of severe generalized EB simplex (EBS) (Dowling-Meara (DM) type) was made. On day 5 of life, she developed fever, and blood culture yielded methicillin-susceptible Staphylococcus aureus (MSSA), prompting initiation of antibiotic therapy. Subsequently, she experienced recurrent episodes of bacteremia and fever caused by Pseudomonas aeruginosa and Enterococcus faecalis.

In this report, we describe the clinical course and management of intractable infections in a neonate with severe generalized EBS harboring a p.Asn176Ile mutation.

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