OBJECTIVETo explore the genetic cause and clinical features of a neonate with bullous congenital ichthyosiform erythroderma.

METHODSThe patient was examined thoroughly. Following the extraction of genomic DNA, next generation sequencing was performed to analyze the genetic cause.

RESULTSThe 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.

CONCLUSIONThe de novo mutation of the KRT10 gene probably underlies the disease in the child.