Abstract: Keratinopathic ichthyoses is a class of ichthyoses caused by genetic defect of keratin. The major pathogenic genes includes keratin 1, keratin 2 and keratin 10. This review described the genetic characteristics of gene mutation and discussed the relationship between the genotype and phenotype in congenital bullous ichthyosiform erythroderma and ichthyosis bullosa of siemens, as well as the clinical features and genetics characteristics of other four rare keratinopathic ichthyoses.

Key words: keratin, ichthyoses