Review Article - Research and Reports on Genetics (2023) Volume 5, Issue 6

Harlequin ichthyosis: A review paper.

Harlequin ichthyosis, is the most severe form of Autosomal Recessive Congenital Ichthyosis (ARCI) with distinctive phenotypic presentation. This arises due to the disruption of the lipid delivery system caused by a mutation in one of the several genes like ABCA12, NIPAL4, PNPLA1, SULT2B1, CERS3, SDR9C7, TGM1, ALOX12B, ALOXE3, and CYP4F22. A mutation in ABCA12 is responsible for causing harlequin ichthyosis in 93% of infants. The severity of the condition seems to be associated with the type of mutation; nonsense mutations and deletions being deleterious with increased mortality as compared to the missense mutations. The neonates born with this condition have hard, thickened armor like skin all over the body and are very prone to infections due to skin exposure. In the past, such infants would die within 2-3 months after birth but with advances in neonatal facilities and retinoid therapy, there is a better chance of survival for infants with the disorder. This review discusses the epidemiology, prenatal and clinical diagnosis, molecular genetics, and treatment for the respective disorder.

Author(s): Jayesh J Sheth*, Yash C Shah, Saumya A Patel

Abstract Full Text PDF