Objective: To explore the genetic cause and clinical features of a neonate with bullous congenital ichthyosiform erythroderma.
Methods: The patient was examined thoroughly. Following the extraction of genomic DNA, next generation sequencing was performed to analyze the genetic cause.
Results: The patient manifested generalized erythema, blistering, and extensive exfoliation of the skin. A heterozygous missence 482T>G mutation was found in the first exon of KRT10 gene, which led to a p.L161W alteration in its protein product.
Conclusion: The de novo mutation of the KRT10 gene probably underlies the disease in the child.