Abstract: Objective: Epidermolysis bullosa simplex migratory circinate erythema (EBS-Migr) is an uncommon subtype of EBS, is an autosomal-dominant inherited blistering skin disease. We report a family of EBS-Migr and detect the related gene mutations. Methods: Clinical data were collected and peripheral blood DNA of the family was extracted. The Whole-exome sequencing was performed and sequencing results were analyzed by bioinformatics to get pathogenic candidate mutations. Then the Sanger sequencing method was used for verification. Results: The mutation in exon 9 (frameshift deletion c.1653_1654delCT) of keratin 5 (KRT5) was detected in the proband and her father. Conclusion: KRT5 mutation (frameshift deletion c.1653_1654delCT) may be the cause of EBS-Migr in this family, and the mutation has not been reported.

Key words: epidermolysis bullosa simplex, migratory circinate erythema, keratin 5