Abstract: Bullous congenital ichthyosiform erythroderma(BCIE) is an autosomally dominant dermatosis. Recent investigations have suggested that K1/K10 gene point mutations may be responsible for this disease. In this study, we analyzed the K10 Exon 1 of a family with BCIE by PCR and DNA sequencing. The patient had typical clinical, histopathological and immunohistochemical manifestations of BCIE. The result showed that condon 156 of K10 gene had a C→A subsititution, which caused arginine to change into serine in 1A subdomain of rod domain of K10 protein. This mutation was found only in the patient, but not in unaffected family members. Our study may provide a reliable basis for the genetic diagnosis of BCIE.

Key words: Ichthyosis,bullous, Genes, Mutation