A baby girl born with a rare case severe congenital disorder with barely any external skin died on Monday in Nagpur after struggling for her life for two days.
The 1.8-kg girl was diagnosed with Harlequin Ichthyosis, a disorder that occurs once in 300,000 births, and her body was covered with thick plates of hardened, cracked skin and her internal organs visible.
In medical parlance, this condition is called Harelquin Ichthyosis, and was recorded in India for the first time.
The ‘Harlequin Baby’ – that’s what babies with this genetic disorder are called – died on Monday evening. She had been facing problems in breathing since morning and was put on a ventilator.
The baby was shown to the mother only on Monday afternoon and in the presence of a psychiatrist. The woman reportedly broke down when she saw her.
Born to a farmer’s family in Amravati in Vidarbha region of Maharashtra, the baby was born pre-term with a hardened skin.
The hard surface covering her body had cracks and she weighed 1.8 kg at birth. She had no ears, was completely blind though she had two bright red bulges in place of eyes, had just two small holes for a nose and an inverted eye lid. Such babies tend to catch infection quickly.
There is no cure for the disorder and studies say such babies need to be fed with feeding tubes for nutritional support as they are born with high risks of infections, low body temperature, difficulty in breathing, and sometimes dehydration.
In 1984, an infant with this disorder was born in Pakistan and the baby lived till 2008. Another such birth was recorded in the USA in 1994.
The longest case of survival with this condition is of Baby Shaheen who was born in 1984 in Pakistan, as per latest medical records, survived at least till the age of 24.