Harlequin Ichthyosis: Rare Genetic Disorder

• 24 Apr 2021

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.

Source DTE