“Harlequin Ichthyosis” – Odisha’s First Case

What is the News?

Odisha reported its first-ever case of a baby born with harlequin ichthyosis. It is a rare genetic condition.

Note: 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.

About Harlequin ichthyosis:

• Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin.
• Cause: The disease is caused due to mutations in the ABCA 12 gene inherited from the parents.
  • The ABCA12 protein plays a major role in transporting fats in cells that make up the outermost layer of skin.
• Severe mutations in the ABCA12 gene lead to the absence or partial production of the ABCA12 protein.
  • This results in a lack of lipid transport. As a result, severity of the mutation affects skin development.
• Impact on Skin: The disease creates large diamond-shaped plates across the body that are separated by deep cracks (fissures). The skin becomes dry and scaly almost like fish skin and hence the term ‘icthyosis’, derived from ‘ikthus’, Greek for fish.
• Cases: The disease affects one in three million births.
• Treatment: There is no cure for harlequin ichthyosis yet. And, the current treatment is centred around protecting the skin and preventing infection.

Source: Down To Earth