Vol. 3, Issue 9 (2017)
Harlequin ichthyosis: Case report
Author(s): Najla Alrumaih, Saad Alqasem, Ali Alghonaim, Faeza Almatari
Abstract: Harlequin ichthyosis (HI) is a rare autosomal recessive disorder characterized by thick, fissured armor-plate hyperkeratosis, ears and nose deformities, ectropion, eclabium with fish mouth appearance, flexion deformities of all joints and hypoplastic digits. The first reported case was in 1750. HI has a poor prognosis with high mortality rate mainly due to infections and metabolic abnormalities. HI has an incidence rate of 1 in 300,000 births. The mainstay of management is supportive care and systemic retinoid therapy in Neonatal Intensive Care Unit. We report a case of newborn girl in Saudi Arabia with HI born to relative parents. She was delivered by cesarean section due to breech presentation of at 35+ gestational age with labor pain. We recommend to have a genetic screening and counseling in all high risk couples e.g. consanguinity marriages as well as having more studies to determine the best mode to deliver a baby with HI.