Harlequin Ichthyosis: A Fatal Case Report in Al-Medina, Saudi Arabia

Harlequin ichthyosis (HI) is an autosomal recessive disorder. It is a fatal disease and many infants born with HI die shortly after birth. The incidence is extremely rare and is reported to be about 1 in 300,000 births. The hallmark of the disease is alligator-like horned skin that is severely keratinized. Several cases of fetal HI have been reported, but to contribute to the collective knowledge of this rare severe skin disorder, we report the first case, from Medina, Saudi Arabia, of a 45-year-old woman who delivered a newborn infant with HI and has a previous history of six infants who died from a similar condition. Obtaining a prenatal diagnosis, in this case, is critical to alleviate the physical and mental suffering experienced by parents and relatives. Management is mainly supportive until now, as no curable therapy has been proven. Genetic counseling of the ABCA12 gene is advised in consanguinity marriage with positive family history.