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Ichthyosis Congenita, Harlequin Type: A Fatal Case Report
Amber Tahir1, Syed Maaz Tariq2, Syed Ali Haider2
1Internal Medicine, Dow University of Health Sciences, Karachi, PAK.
Abstract:
Harlequin baby is rare and it is the most severe kind of congenital ichthyosis. It manifests as severely keratinized skin with an autosomal recessive inheritance. Incidence of this disease is 1 in 300,000 live births. We report a new case of harlequin ichthyosis (HI) from Pakistan to contribute to the collective knowledge of this condition. HI is associated with ABCA12 gene mutation; hence, genetic screening and counseling to susceptible parents must be considered.
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