ABSTRACT

Harlequin ichthyosis is a genodermatosis characterized by an extreme thickening of the fetal skin. It is the most severe form of autosomal recessive congenital ichthyosis. Massive, horny shell of dense scales and contraction abnormalities of the eyes, ears and mouth are the main characteristics of the affected newborns. Harlequin ichthyosis was uniformly fatal. Intense supportive care with appropriate topical treatment and systemic retinoid therapy in the neonatal period has changed the fate of patients. Here, we represent a Harlequin ichthyosis case which was successfully treated with acitretin.