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Tuesday, September 22, 2020

Harlequin Ichthyosis: Born with ‘hard, thick skin’, Nagpur baby is 1st case of rare genetic disease in India

Suffering from a rare genetic disorder that affects the skin, the baby was born with hard thick skin that covered her entire body with cracks in between.

Written by Tabassum Barnagarwala | Mumbai | June 12, 2016 3:28:02 am

India’s first recorded case of a Harlequin Ichthyosis baby was reported in Nagpur early Saturday, after a pre-term baby girl was born to a young farmer couple in Lata Mangeshkar Hospital.

Suffering from a rare genetic disorder that affects the skin, the baby was born with hard thick skin that covered her entire body with cracks in between. The pre-term baby has two holes for a nose, an inverted eye lid, no ears and a fish-like mouth. According to doctors currently treating her in the neonatal intensive care unit, a series of tests in next two days will help ascertain her entire medical condition.

“Such babies are prone to infection as their internal organs are exposed. We are keeping her skin moist by applying petroleum jelly. For now, we are not sure whether she even has eye balls,” said paediatrician Yash Banait.

The baby was born after an eight-month pregnancy to a 23-year-old mother and a 27-year-old farmer father. They both carry the mutated genes that cause this skin disorder. The ABCA12 gene mutation leads to Harlequin disorder.

Since the couple belongs to the below-poverty line income group, the pregnant mother never underwent any maternity tests during pregnancy in her village in Nagpur district. Such a disorder can be detected in the fourth month of pregnancy, following which doctors can advise a termination.

According to gynaecologist Prachi Dixit, the delivery came “as a shock” to the parents who never suspected growth abnormalities in the newborn. The baby had a normal foetal heartbeat and was delivered after a caesarean procedure at 12.45 am in the hospital.

The baby girl, weighing 1.8 kgs, is also the first child of the recently married couple and currently battles for
survival in the face of several medical anomalies.

According to a group of doctors monitoring her, she is prone to hypothyroid, respiratory ailment and organ malfunction due to underdeveloped organs.

The disease’s incidence is one in three lakh babies.

“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,” Banait said.

“It is a girl child and there is also social stigma attached with such a case. In a village, people can term it as ‘ghost baby’ so we are ensuring that the identity of the parents is hidden,” the doctor added. So far, the mother, who is still under anaesthesia, has not been informed about her daughter’s condition.

The father and the grandmother of the newborn are by her side.

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