Recurrent Case of a Rare and Devastating Entity: Harlequin Ichthyosis

Abstract

Harlequin ichthyosis (HI) is a rare and severe form of congenital ichthyosis caused by truncating mutations in the ABCA12 gene. Although it has many distinctive signs on perinatal sonography such as short limbs, wide gaping mouth, joint contractures, edema of the hands and feet and cloudy amniotic fluids, it usually can not be diagnosed until birth. Herein, we report a case of recurrent HI, which remained undiagnosed until labor at 38 weeks of gestational age. A multiparous woman presented to hospital at 38th weeks of gestation. There were no personal or family history. Vaginal delivery was performed and a 3300 gram baby was delivered. The body of the neonate was covered with thick, armor like skin, have generalized edema and erythematous fissures, scanty hair, everted eyelids with exposed swollen conjunctiva, open mouth were noted at the first examination. Newborn was diagnosed to be having Harlequin ichthyosis and was given to neonatal intensive care unit (NICU) for supportive care and additional examination. Genetic counseling is important and should be recommended to affected families. With the growing technology electron microscopes, invasive prenatal diagnostic tools and 3D sonography may reveal suggestive features of the disease. In addition, new treatment regimens, experienced and competent NICU facilities may increase survival rates.