重症汎発型単純性表皮水疱症（EBS）新生児における難治性感染症の管理：症例報告

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.