Harlequin Ichtyosis: A Case Report

Abstract

Harlequin ichthyosis is a severe and usually fatal congenital keratinization disorder. Although it has many characteristic findings on prenatal ultrasound such as a wide gaping mouth, intrauterine growth retardation, short limbs, joint contractures, edema of the hands and feet and cloudy amniotic fluid, most of the time it is diagnosed at birth. In this case report we summarize a patient who delivered a baby with Harlequin ichthyosis.

Keywords

• Harlequin ichthyosis, Prenatal diagnosis