In a heart-wrenching incident, the Quang Ninh Obstetrics and Gynecology Hospital recently received a 27-year-old mother from the Dao ethnic group in Van Don, Quang Ninh province, Vietnam. She gave birth prematurely at just 32 weeks to a baby girl with an incredibly rare and severe skin disorder known as Harlequin Ichthyosis. This harrowing condition causes the baby’s skin to be dry, thick, and cracked, resembling fish scales. The child’s entire body is affected, leading to intense pain and discomfort.
This was the mother’s sixth pregnancy, and it is reported that she had not sought regular medical care during her pregnancy. Additionally, she did not undergo any prenatal screening tests, which could have helped detect any potential issues. Consequently, this genetic condition was not identified during her pregnancy, and the baby was born with this rare and challenging skin disorder.
Dr. Dang Hong Duyen, from the Department of Neonatology at Quang Ninh Obstetrics and Gynecology Hospital, explained that Harlequin Ichthyosis is an extremely rare genetic disorder. It is characterized by severe dry skin with scales that resemble those of a fish. This condition falls under a group of recessive genetic diseases, with an incidence rate of about 1 in 500,000 births. It results in the dermis being up to 10 times thicker than normal skin, with a growth rate approximately seven times faster than that of a healthy individual.
To understand the condition better, it’s essential to delve into its genetic origins. Harlequin Ichthyosis occurs due to a mutation in a recessive gene located on chromosome 2, known as the ABCA12 gene. This gene is responsible for regulating the synthesis of the ABCA12 protein (ATP-binding cassette transporter 12) in the skin. This protein plays a vital role in transporting lipids to the epidermis, where it forms a protective barrier for the skin. However, a mutation in this gene leads to a deficiency or absence of ABCA12 protein within the skin layer. Consequently, lipids are not transported properly but instead accumulate in the cell membrane, causing the stratum corneum to become thicker and harder. This thickening results in deep, painful cracks in the skin, leading to the characteristic appearance of Harlequin Ichthyosis.
Harlequin Ichthyosis’s inheritance is recessive, meaning that a child “inherits” both the mutated genes from both parents, leading to the manifestation of the condition. It is a genetic mutation that can significantly alter the structure and appearance of the skin in affected individuals.
In the wake of this tragic situation, doctors and healthcare professionals are emphasizing the importance of prenatal screening and regular medical care for pregnant women. Prenatal screening tests are essential tools for identifying potential birth defects and conditions like Harlequin Ichthyosis early in the pregnancy. Detecting these conditions in their initial stages can help medical experts provide better care and support to the baby and their family, increasing the chances of positive outcomes.
While the baby and her family face many challenges ahead, medical professionals are working diligently to provide the best possible care and support for this incredibly rare and complex condition.
