- 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.
Important points:
- 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 (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.
- 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: THE HINDU ,THE ECONOMIC TIMES ,MINT