Abstract

It is the severe genetic disorder affecting the skin. Infants with this disorder are born with thick and hard skin almost covering the entire body. On the skin deep cracks are formed separating diamond shaped skin as plates. The eyelids, ears, mouth and nose are affected by these skin abnormalities limiting the movements of arms and legs. Chest movements are also restricted leading to difficulties in breathing and respiratory failure. Due to various complications like dehydration related, infectious and respiratory problems, the newborn infants die usually at first days of life. Harlequin ichthyosis is caused by the mutations in ABCA12 gene. A protein which is essential for the developing of skin cells is instructed for making by the ABCA12 gene. Transport of lipids is majorly caused by this protein into the outermost layer i.e. epidermis. ABCA12 protein making is been prevented by the mutations occurring in ABCA12 gene. It was demonstrated that Harlequin ichthyosis occurs mainly due to the loss of ABCA12 functional mutations, which involves in the coding of lamellar granule membrane proteins which are involved in lipid transport. Severe dysregulation of cornification is resulted from loss of ABCA12 expression in humans, resulting in coverage of infants in armor of lethal type. Based on these findings and our ability to offer mutational screening and early DNA-based prenatal diagnosis of Harlequin ichthyosis shall be dramatically improved.

Keywords

Harlequin Ichthyosis, ABCA12 Gene, Lipid Transport, Stratum Corneum

Cite This Article

Rafeeq, H., Ahmed, O., Ali, S., Younus, M., Bilal, M. (2015). A Review on Harlequin Ichthyosis, International Journal for Pharmaceutical Research Scholars (IJPRS), 4(3), 189-193.