Harlequin Ichthyosis
Sriparna Basu, Amrita Ghosh Kar*, Arti Mata**, S Gupta, Ashok Kumar, B D Bhatia
Departments of Pediatrics, Pathology* and Gynae and Obstetrics**, Institute of Medical Sciences, Banaras, India
Abstract

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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