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Authors: Pradipprava Paria, Prabodh ch Mondal, Sibnath Gayen, Gobinda Chandra Das

Int J Med Res Health Sci.2016;5(1):105-106 | pdf PDF Full Text

Harlequin ichthyosis is the most severe form of congenital ichthyosis. It is a rare autosomal recessive disorder (1:300,000). The vast majority of affected individuals are due to mutation in the ABCA12 gene, which cause a deficiency of the epidermal lipid transporter, resulting in hyperkeratosis and abnormal barrier function of skin. Infants are very susceptible to metabolic abnormalities and infections. They usually do not survive for very long. We report here a case of a newborn with harlequin ichthyosis of consanguineous parentage who had a history of similar birth previously.

Key words: Harlequin ichthyosis, ABCA12 gene mutations, bad prognosis

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