Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report

Neonatal Epidermolytic Ichthyosis Caused by a KRT10 Mutation (c.467G>A, p.Arg156His): A Case Report

ABSTRACT 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 mu...

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Bibliographic Details
Main Authors: Elke Smits, Gunnar Naulaers, Maria C. Bolling, Eric Legius, Caroline Colmant
Format: Article
Language:English
Published: Wiley 2025-08-01
Series:Clinical Case Reports
Subjects:
blistering skin disease
congenital erythroderma
epidermolysis bullosa
epidermolytic hyperkeratosis
epidermolytic ichthyosis
Online Access:https://doi.org/10.1002/ccr3.70682
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https://doi.org/10.1002/ccr3.70682

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