Abstract: Objective: To detect the mutations of KRT1 and KRT10 genes in a sporadic patient with congenital bullous ichthyosiform erythroderma (BCIE). Methods: Clinical data and the peripheral blood of the patient were collected and DNA was extracted. All coding exons and flanking sequence of the KRT1 and KRT10 genes were amplified by PCR. PCR products were directly sequenced to detect mutations. One hundred unrelated healthy people were as controls. Results: A heterozygous missense mutation c.467G>A in exon 1 of KRT10 gene was identified, which led to the protein at position 156 unnormal (p.R156H). This mutation was not detected in her unaffected parents and 100 normal controls. There was no mutation of KRT1 in all samples. Conclusion: Mutation of c.467G>A of KRT10 gene may be the genetic cause of BCIE in the sporadic patient.

Key words: congenital bullous ichthyosiform erythroderma, KRT10 gene, mutation