Harlequin Ichthyosis (Pathogenesis, Morphology, and Diagnosis)

Abstract

Ichthyoses are a group of disorders marked by whitish, brown or dark-brown scales on the skin of almost the whole body. Harlequin ichthyosis (HI) is the most severe form. Neonatal death from HI was once common. Due to intensive neonatal care and, probably, to the early introduction of oral retinoids, Severe ABCA12 deficiency results in malformation of intercellular lipid layers in the cornified layers and leads to epidermal lipid barrier disruption. In HI patients, at least one mutation on each allele must be a truncation or deletion mutation to cause serious loss of ABCA12 function. Identification of the gene underlying HI has enabled DNA-based prenatal diagnosis for HI at the earlier stages of pregnancy with low risk. There are no curative treatments for HI, this report was undertaken with an objectives to review the mutation in (ABAC12) underline the severe congenital skin disease and to know the prenatal diagnosis of harlequin ichthyosis and to describe the pathomechanism of harlequin ichthyosis and the characteristic morphologic abnormality of harlequin ichthyosis detected in amniotic fluid cells.