HARLEQUIN ICHTHYOSIS – A RARE GENETIC SKIN DISORDERS

Kalyani Dhamal*, Omkar Bhalekar, Pragati Padhake, Vrushali Shelar, Anuja Misal

ABSTRACT

Skin disorder are vary in symptoms and severity. They may be minor, temporary or permanent, painless or painfull, life threatening. Harlequin ichthyosis is rare genetic skin disorder. It caused due to mutation in ABCA12gene. Gene ABCA12 has role in preparing protein which responsible for making skin cells. They transport lipids to superficial layers of skin. When ABCA is muted, skin barrier is distrupted. A newborn infant skin covered with thick plates of skin that crack and split apart. This genetic disorder is inherited in an autosomal recessive pattern. The tightening of skin became difficulty in breathing and eating. Infants born with harlequin ichthyosis have flat nose, feet and hand are small and swollen, ear are missing, and also joint mobility. It can be diagnosed at birth based on baby physical apperance. This review is focused on making awareness about rare genetic skin disorder.

Keywords: Harlequin Ichthyosis, ABCA12,Genetic disorder.