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01-06-2019 | Ichthyosis | Pictorial Essay
Harlequin Ichthyosis: A Rare Case of Congenital Ichthyosis
Published in: The Journal of Obstetrics and Gynecology of India | Issue 3/2019
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We report a case of Harlequin ichthyosis (HI), extremely rare genetic disorder (1 in 300,000) with high (25%) recurrence rate in successive pregnancies. A preterm baby, born out of a consanguineous marriage, had all the features of HI (Figs. 1, 2). The underlying defect involves mutations in ATP binding cassette (ABCA12) gene responsible for transporting lipids to epidermal cells of skin.
Fig. 1
Newborn with Harlequin ichthyosis
Fig. 2
Antenatal Ultrasonographic (USG) scan at 17 weeks showed no gross anomaly
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