ISSN - 0973-0958

Pediatric Oncall Journal View Article

Harlequin Ichthyosis
Sriparna Basu1, Amrita Ghosh Kar2, Arti Mata3, S. Gupta1, Ashok Kumar1, B.D. Bhatia1.
1Departments of Pediatrics, Institute of Medical Sciences, Banaras, India,
2Departments of Pathology, Institute of Medical Sciences, Banaras, India,
3Departments of Gynae and Obstetrics, Institute of Medical Sciences, Banaras, India.
Harlequin ichthyosis is the most severe form of congenital ichthyosis. It is a rare autosomal recessive disorder (1:300,000) and common in consanguineous marriages (1). The skin development is altered in utero due to defective lipid metabolism in lamellar granules of the keratinocytes. The primary defect lies in the protein phosphatase activity. Lack of desquamation and massive accumulation of scales leads to the characteristic morphological features. We report a case of harlequin ichthyosis who had a history of similar affection in two earlier siblings.

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