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Harlequin ichthyosis: A rare case

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GALENOS YAYINCILIK
DOI: 10.4274/tjod.63004

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Harlequin ichthyosis; adenosine triphosphate binding cassette A12; autosomal recessive

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Harlequin ichthyosis is a very rare condition that affects the skin of newborns. It is associated with poor barrier function of the skin leading to dehydration and leaves newborns prone to infections. It is due to mutations in adenosine triphosphate binding cassette A12 gene transmitted as an autosomal recessive disorder. The prognosis is very poor in these cases. Here, we report one such rare case.

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