Ichthyosis Congenita, Harlequin Type: A Fatal Case Report

Abstract

Harlequin baby is rare and it is the most severe kind of congenital ichthyosis. It manifests as severely keratinized skin with an autosomal recessive inheritance. Incidence of this disease is 1 in 300,000 live births. We report a new case of harlequin ichthyosis (HI) from Pakistan to contribute to the collective knowledge of this condition. HI is associated with ABCA12 gene mutation; hence, genetic screening and counseling to susceptible parents must be considered.