Rarest of the rare: India's first 'Harlequin' baby born to a Nagpur couple

Rarest of the rare: India's first 'Harlequin' baby born to a Nagpur couple

"The overall incidence of Harlequin Ichthyosis is one in three lakh births," informs Dr Yash Banait who delivered the 'Harlequin' baby

In India’s first such case, a Nagpur woman gave birth to a girl with Harlequin Ichtyosis, a rare genetic mutation that causes the baby to have no perceivable skin.

The baby was born on June 11 at 12.30 am, in the Lata Mangeshkar Medical College and Hospital, with a team of four doctors including Dr Yash Banait, Dr Prachi Dixit, Dr Meenakshi and Dr Nilofar Mujawar, involved in the delivery.

Speaking to Deccan Chronicle, Dr Banait informed, “The infant was born with a congenital disorder, which occurs because of mutation in the genes. The overall incidence of Harlequin Ichthyosis is one in three lakh births.”


Image courtesy: Deccan Chronicle

What is a ‘Harlequin’ baby?

“Harlequin ichthyosis is a very rare severe genetic skin disease, which causes thickening of the stratum corneum of the epidermis. In such cases, the child’s whole body is encased in an ‘armour’ of thick white plates of skin, separated with deep cracks. In addition, the eyes, ears, private parts and the appendages may be abnormally contracted,” he said.

The doctors revealed that the baby was born pre-mature through C-section and had hard cracks all over her body. In fact, at the time of birth, she only weighed 1.8kgs and had no visible ears, was blind and had two bulges in place of eyes.

The baby was born post an eight-month pregnancy to the 23-year-old mother and a 27-year-old farmer father. The doctors said that the parents carried the mutated genes that caused this skin disorder.

The ABCA12 gene mutation leads to Harlequin disorder.

“Because of resultant cracked skin in locations where normal skin would fold, it is easily pregnable by bacteria and other contaminants, which can result in serious risk of fatal infection,” Dr Banait added.

Continue reading to see the baby’s present condition and how the doctor’s plan to save her.

The baby’s current condition 

The girl has been kept under observation and is being constantly applied with petroleum jelly to keep her outer layer moisturised.

“Doctors will be undertaking a 2D Echo investigation to ascertain the cardiac deformities or anomalies if any. The baby requires proper moisturisation and petroleum jelly and coconut oil serves good for this. Nutritional rehabilitation has to be undertaken regularly. But this baby is not finding any difficulty in breathing,” he said.

The doctors said that usually this type of foetus can be identified during pre-natal testing, however the baby’s family was unable to afford the test.

“Ultrasound can reveal abnormal facial features with ectropion, eclabium, short foot length, incurved toes, clenched fists, poor delineation of nostrils, and polyhydramnios,” he said.

Previous cases of rare ‘Harlequin’ babies in the world

Dr Banait added that “The longest case of survival we know is of baby Shaheen who was born in 1984 in Pakistan. Her last medical records are from 2008. We are sure she survived at least till the age of 24. But normal skin never grows back in this condition.”


Image courtesy: CBS News

However, this was not the first case of a ‘Harlequin’ baby. The US-based Brenna Westlake, who was born on December 19, 2011, was a ‘Harlequin’ baby and was born with Harlequin Ichthyosis.

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Written by

Deepshikha Punj

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