The first familial cases of epidermolysis bullosa simplex, generalized severe with p.Asn176Ser in KRT5 revealing the clinical chronology

A 5-month-old girl was referred to our department with extensive blistering and erosions on the whole body since birth. The proband was the third child of non-related parents and her father had had similar skin symptoms in childhood (Fig. 1A). She was born by elective Caesarean section after a 37-week gestation because of her mother's repeated Caesarean sections. She had a birth weight of 2608 g and a birth length of 47.0 cm. Clinical findings revealed flaccid blisters and erosions on the whole body with some of the blisters forming annular shapes (Fig. 1B-E). Thickening of the nails was observed (Fig. 1C). Her oral mucosa was intact. Transmission electron microscopy (TEM) showed blister formation within the cytoplasm of the epidermal basal cells (Fig. 1F), leading us to diagnose epidermolysis bullosa simplex (EBS). The clumping of degenerated keratin fibres was not observed within epidermal keratinocytes (Fig. 1G). This article is protected by copyright. All rights reserved.