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Home Science & Tech

Harlequin Ichthyosis

April 23, 2021
in Science & Tech
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Harlequin Ichthyosis
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In News: 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.

About Harlequin Ichthyosis

  • 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.
  • 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.. 
  • The skin is dry and scaly, almost like fish skin and hence the term ‘icthyosis’, derived from ‘ikthus’, Greek for fish.
  • The facial features of the baby, including the mouth, eyes and ears were deformed, restricting breathing and eating. 
  • The baby was kept in the intensive care unit. 
  • The condition of the mother was good, Indira Palo, assistant professor at the college and hospital’s gynaecology department.
  • India’s first recorded case of a baby born with harlequin ichthyosis was in 2016, at a private hospital in Nagpur, Maharashtra. 
  • Such cases were also reported in Delhi, Patna and West Bengal. 
  • The infants could not survive for long and succumbed to the disease days after birth.
  • There have been maybe 200 to 250 such cases across the world.
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Source: DownToEarth
Tags: News PaperPrelims

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