Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report
Elke Smits1, Gunnar Naulaers2,3, Maria C Bolling4
1Department of Pediatrics University Hospitals Leuven Leuven Belgium.
None:
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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