Abstract: Autosomal recessive congenital ichthyosis (ARCI) has been reported to be associated with variety of genetic mutations. Low expression or loss of function of these proteins due to the gene mutations may result in accumulated scales, impaired barrier function and skin increased water loss. Meanwhile, we find that the clinical phenotypes of patients are different with mutated genes and so as the severity of symptoms and recovery status. The update of ARCI related gene variants, clinical phenotype and pathology were reviewed in this paper.

Key words: childhood, autosomal recessive congenital ichthyosis, gene mutation, phenotypes