Abstract

A BRIEF OVERVIEW ON HARLEQUIN ICHTHYOSIS

*Ang Solanki, *Shubham Kumar Sah, Dr. Satyaendra Shrivastava and Nripen Prakash Khare

ABSTRACT

Harlequin Ichthyosis (HI) is the most harsh & catastrophic form of disease which causes due toe to mutation & disruption in the ABCA12 gene which is subfamily member of ATP binding cassette transporter which is responsible for lipid transport in keratinocytes .The mapping of HI war found in the chromosomal region of 2q33-q35 sequencing of the ABCA12 gene. These diseases commonly caused in the new infants with the symptoms like thick & hard skin, diamonds shaped palates, deep red fissures in the whole body surface. On the other hand the few rarest symptoms are to be Ectropion, Eclabium, flattening of ears & nose were noted. In the study we describe about the management & some possible treatments to keep the infants alive. Intervention studies have shown regaing of lipids secretion in lamellar granules using corrective gene therapy. Additionally investigation is needed to develop possible treatments to retinoid in HI.

Keywords: Harlequin Ichthyosis, ABCA12 gene, keratinocytes, Autosomal recessive disorder.