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Odisha’s first case of harlequin ichthyosis

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    Science & Technology
  • Published
    26th Apr, 2021


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.

  • The disease 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.

What is the cause of the disease?

  • 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.
  • Severe mutations in the gene lead to the absence or partial production of the ABCA12 protein.
  • This results in lack of lipid transport and as a result, the skin development is affected by varying degrees according to the severity of the mutation.
  • The disease is rare and only a handful of cases have been recorded across the world.