Harlequin Ichthyosis

Introduction Harlequin ichthyosis (HI) is an exceptionally rare, autosomal recessive, genodermatosis characterized by profound abnormalities in epidermal barrier formation, leading to life-threatening complications in the neonatal period. It is the most severe form of autosomal recessive congenital ichthyosis (ARCI), with an estimated incidence of approximately 1 in 300,000 live births. Despite advances in neonatal intensive…