Harlequin Ichthyosis: A Rare Case Report SciDoc Publishers | Open Access | Science Journals | Media Partners

Harlequin fetus is a rare and the most severe genetic form of the congenital ichthyosis with an autosomal recessive inheritance. Incidence of the disease is nearly 1 in 3,00,000 live births. The disease might be lethal at birth and the affected babies are often premature. Harlequin ichthyosis [HI] is marked by severe keratinized and alligator-like horned skin. The present study reports a new case of harlequin fetus born to the consanguineous parents. He had the typical skin manifestations of thick armour like scales with fissures, complete ectropion and eclabium, atrophic and crumpled ears and swollen extremities. Supportive treatment was given but the neonate died on the 7th day. Adds to the collective knowledge of this rare skin disorder. HI has been linked to mutation in the ABCA12 gene; which cause a deficiency of the epidermal lipid transporter, resulting in hyperkeratosis and abnormal barrier function. Therefore, genetic counseling and mutation screening of this gene should be considered