Harlequin fetus in a twin sibling: a rare case report

Abstract

Objective Ichthyosis is a heterogeneous group of disorders characterized by hereditary keratinization of the skin. There are at least 20 different types of ichthyosis. Among these, Harlequin-type ichthyosis is a rare, but often fatal, special form of congenital ichthyosis. Our main goals in presenting this Harlequin-type ichthyosis case are to emphasize the antenatal diagnosability, avoid complications associated with the disease, indicate the need to initiate timely and appropriate treatment to combat these complications, and emphasize that ichthyosis is rare in twin pregnancies. Case(s) We presented an ichthyosis case born from a dizygotic pregnancy of a Syrian woman living as a refugee in Turkey. Despite all the medical procedures performed in the neonatal intensive care unit, the baby who was diagnosed with Harlequin type ichthyosis died on the second postpartum day. Conclusion Few cases of ichthyosis in twins have been reported. It is very important to benefit from prenatal screening and genetic counseling in the early diagnosis of such inherited, rare and fatal diseases.