Prenatal Diagnosis of Harlequin Icthyosis.

Abstract

Harlequin icthyosis is a very rare but most fatal form of Autosomal recessive congenital icthyosis [1]. It is characterized by very thick keratin layer of skin, flattened ears,[2] , fish mouth appearance of the eclabium and diffuse plate like hexagonal scales (similar to the costume of the comic character Archetypal Harlequin). The affected babies usually cannot even survive first few days of life[3] Our aim is to contribute to the knowledge pool which could help our peer group of radiologists to get familiarize with the findings in order to increase the chances of diagnosing this condition prenatally.