Harlequin ichthyosis case reported in Odisha

According to Down to Earth, Odisha reported its first-ever case of a baby born with harlequin ichthyosis, a rare genetic condition, at a hospital in Berhampur in the state’s Ganjam district April 22, 2021.

  • The disease harlequin ichthyosis affected one in three million births and is caused due to a mutated gene inherited from the parents.
  • The disease sees the skin form large diamond-shaped plates across the body that are separated by deep cracks (fissures). The skin is dry and scaly, almost like fish skin and hence the term ‘icthyosis’, derived from ‘ikthus’, Greek for fish.
  • Mutations in the ABCA 12 gene are stated to cause harlequin ichthyosis. The ABCA12 protein plays a major role in transporting fats in cells which make up the outermost layer of skin.
  • India’s first recorded case of a baby born with harlequin ichthyosis was in 2016, at a private hospital in Nagpur, Maharashtra.

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