Harlequin ichthyosis: Case report.

Abstract

Harlequin fetus is a rare and the most severe 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 with HI and adds to the collective knowledge of this rare skin disorder. HI has been linked to mutation in the ABCA12 gene; therefore, genetic counseling and mutation screening of this gene should be considered.