Get it on Google Play

Harlequin Ichthyosis

Harlequin Ichthyosis:

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.
  • 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.

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.
Get it on Google Play

Leave a Reply

Your email address will not be published. Required fields are marked *