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Harlequin Ichthyosis: Rare Genetic Disorder

  • 24 Apr 2021
  • 3 min read

Why in News

Recently, Odisha reported its first-ever case of a baby born with Harlequin Ichthyosis, a rare genetic skin condition.

  • India’s first recorded case of a baby born with harlequin ichthyosis was in 2016, at a private hospital in Nagpur, Maharashtra.

Key Points

  • About:
    • Harlequin Ichthyosis is a rare genetic skin disorder to a newborn infant.
    • It’s a type of ichthyosis, which refers to a group of disorders that cause persistently dry, scaly skin all over the body.
    • It is inherited in an autosomal recessive pattern.

Autosomal Recessive Pattern

  • Autosomal (that means inherited) Recessive Pattern is a way, where a genetic trait or condition can be passed down from parent to child.
  • A genetic condition can occur when the child inherits one copy of a mutated (changed) gene from each parent.
  • If an individual receives one normal gene and one abnormal gene for the disease, the person will be a carrier for the disease.
  • The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.
  • Causes:
    • It can be caused by changes (mutations) in the ABCA12 gene.
    • ABCA12 Gene gives instructions for making a protein that is necessary for skin cells to develop normally.
    • It plays a key role in the transport of fats (lipids) to the most superficial layer of the skin (epidermis), creating an effective skin barrier.
    • When this gene is mutated, the skin barrier is disrupted.
  • Impact:
    • Newborn infants are covered with plates of thick skin that crack and split apart and can restrict breathing and eating.
    • Premature birth is typical, leaving the infants at risk for complications from early delivery.
  • Affected Population:
    • It affects males and females in equal numbers.
    • It affects approximately one in 5,00,000 persons.
    • There are around 250 such cases across the world.
  • Treatment:
    • A newborn with Harlequin ichthyosis requires neonatal intensive care, which may include spending time in a heated incubator with high humidity.
  • Related Disorder:
    • Lamellar ichthyosis is an inherited skin disorder characterized by broad, dark, plate-like scales separated by deep cracks.
      • Its symptoms are similar to Harlequin Ichthyosis.

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