A Newborn in Western Nepal with Harlequin Ichthyosis: A Case Report

Harlequin ichthyosis (HI) is a rare autosomal recessive congenital with an incidence of 1 in 300,000 live births. It lethal 44% cases and the baby usually prematurely born. These babies have thick, highly keratinized armor-like skin, which forms large diamond, trapezoid or rectangular plates separated by deep fissures. affect shapes eyelids, nose, mouth ears, also limit movement arms, legs chest. This condition linked nonsense frameshift mutation ABCA12 gene, responsible for lipid transport keratinocytes. gene synthesizes protein that transports lipid, epidermoside, glucosylceramide, out stratum corneum cells epidermis. To our knowledge, this first case report on from Nepal, makes unique. The take away lesson couples consanguineous marriages should undergo screening if they plan to conceive.