Case report highlights skin blistering in a neonate with a KRT10 mutation, suggesting a need for multidisciplinary diagnosis.
We present a neonatal case of skin blisters and erythema. While epidermolysis bullosa was initially suspected, immunofluorescence antigen mapping and genetic testing confirmed epidermolytic ichthyosis, with a heterozygous pathogenic variant in the KRT10 gene (c.467G>A, p.Arg156His). A multidisciplinary approach is essential for accurate diagnosis and treatment of neonatal blistering conditions.
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Smits et al. (2025) studied this question.
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