International Journal of Medical and Health Research

International Journal of Medical and Health Research


International Journal of Medical and Health Research
International Journal of Medical and Health Research
Vol. 3, Issue 9 (2017)

Harlequin ichthyosis: Case report


Najla Alrumaih, Saad Alqasem, Ali Alghonaim, Faeza Almatari

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.
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How to cite this article:
Najla Alrumaih, Saad Alqasem, Ali Alghonaim, Faeza Almatari. Harlequin ichthyosis: Case report. International Journal of Medical and Health Research, Volume 3, Issue 9, 2017, Pages 33-35
International Journal of Medical and Health Research