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

Abstract

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.

The successful treatment of Lamellar Ichthyosis—a plastic surgeons perspective

“…It is characterized by thickened scaly plaques, which are usually separated by deep fissures. These plaques may involve the entire body from head to toe with sparing of the penis or skin folds and creases [ 6 ]. Less commonly, these cases may involve the entire body without sparing such as seen in our case.…”

Assessing the Use of Ustekinumab in a Pediatric Patient With Harlequin Ichthyosis

“…Systemic retinoids have been shown to not only help promote the shedding of hyperkeratotic plaques but may also improve both the digital and thoracic constrictions, leading to improved breathing and functional movement. Additionally, systemic retinoids have also been shown to decrease the risk of digital necrosis [1,3].…”

“…Neonates with HI have a reported 50% mortality rate, primarily due to a compromised skin barrier, resulting in dehydration, electrolyte imbalances, thermodysregulation, and a high risk of sepsis. In addition, the presence of thick hyperkeratotic plaques may limit chest expansion, thereby potentially increasing the risk of respiratory failure and contributing to the high mortality rate [1,3]. HI has traditionally been thought to be difficult to treat, as there are no treatments currently available that are approved by the Food and Drug Administration (FDA).…”