Harlequin Ichthyosis - An Autosomal Disorder in Infants

Harlequin ichthyosis is an autosomal recessive very rare genetic disorder mainly seen in infants. This disease is mainly caused due to mutation in the gene for the protein ABCA12. The infants suffering with this disease have cracks and diamond shaped scales on the skin. This can be diagnosed by light microscopy, ultra structural findings etc. There are certain methods to treat this disease but there is no prevention. This article mainly deals with the symptoms, causes, epidemiology, pathogenesis, diagnosis, treatment and prevention of the Harlequin ichthyosis.


Deepthi DK, Pallavi K, Supriya K,

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