European Journal of Molecular & Clinical Medicine

Abstract

Harlequin foetus is an uncommon and severe form of congenital ichthyosis that is inherited as autosomal recessive which affects about one in every 3,00,000 live births. This ailment is fatal at birth. The skin is severely keratinized and horned, similar to that of an alligator as  HI has been associated to a mutation in the ABCA12 gene, genetic counselling and mutation screening of this gene should be considered. This is a case report of such a baby at birth