Odisha has recently witnessed its first-ever case of a newborn baby diagnosed with Harlequin Ichthyosis, a rare and severe genetic skin disorder. Notably, this is not the first time this condition has been reported in India. Back in 2016, a private hospital in Nagpur, Maharashtra had documented India’s first recorded case of Harlequin Ichthyosis.
Harlequin Ichthyosis: An Overview
A subtype of ichthyosis, Harlequin Ichthyosis manifests as persistently dry, scaly skin covering the body. Ichthyosis is a group of skin disorders that cause similar symptoms. Typically observed in newborn infants, Harlequin Ichthyosis is inherited via an autosomal recessive pattern.
Understanding Autosomal Recessive Pattern
In simple terms, an autosomal recessive pattern refers to a mode of inheritance where a child receives a mutated or altered gene from each parent. A person becomes a carrier for the disease when they receive one normal gene and one abnormal gene associated with the disease. Each pregnancy carries a 50% chance that the child could be a disease carrier, like their parents, and a 25% chance of the child receiving normal genes from both parents. It’s worth noting that this risk is the same for both genders.
The Culprit: ABCA12 Gene Mutation
The primary cause of Harlequin Ichthyosis is mutation in the ABCA12 gene, which encodes a protein crucial to normal development of skin cells. This protein plays a pivotal role in lipid transportation towards the skin’s outermost layer, the epidermis, thereby creating an effective skin barrier. Consequently, mutation in this gene disrupts the skin barrier.
Effects on Newborns
Newborns suffering from Harlequin Ichthyosis are usually born prematurely. Their bodies are covered with thick plates of skin that crack and split, potentially causing difficulties in breathing and eating. These infants, already vulnerable due to early delivery, are at further risk with this debilitating condition.
Who does it affect?
Harlequin Ichthyosis has been recorded in males and females in equal proportions. Statistically, it affects around one in every 500,000 individuals globally. As of now, there are approximately 250 reported cases worldwide.
Treatment Options
A newborn diagnosed with Harlequin Ichthyosis requires intensive neonatal care. This might include placement in a heated, high-humidity incubator to help manage the condition.
A Related Disorder: Lamellar Ichthyosis
Lamellar Ichthyosis is another inherited skin disorder, exhibiting symptoms similar to Harlequin Ichthyosis. It is characterized by broad, dark, plate-like scales separated by deep cracks across the skin’s surface. Both conditions present significant challenges to affected individuals and underscore the importance of genetic research in developing effective treatments.
