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Department of Dermatology, First Affiliated Hospital ofJinan University, Guangzhou 510630, China

Harlequin ichthyosis(HI) is a severe subtype of autosomal recessive congenital ichthyoses(ARCI).HI often has typical clinical manifestations and is fatal in most of affected newborns.Recently,much progress has been made in the researches about the genetic pathomechanism of HI,and it has been identified about the causative genes and related molecules of HI.Now it is considered that ABCA12 is a keratinocyte lipid transporter in the stratum comeum,and functional loss of ABCA12 may lead to a disturbance in lipid transfer,which in turn results in the onset of HI.The study on HI-related genes and their function may benefit the diagnosis,genetic counseling and treatment of this disease.