The first case was reported in Delhi of a baby born with Harlequin Ichthyosis, a rare genetic skin disorder who died on Tuesday after developing respiratory problems at Kasturba Gandhi Hospital in Daryaganj.

Harlequin Ichthyosis literally means a person born with dry, scaly skin like a “fish”. It affects 1 in 300,000 births due to inheriting a mutated gene from a parent.

Babies with this condition have very hard, thick skin that covers most of their body. It breaks into large diamond-shaped plates separated by deep fissures (fissures).

Facial features such as the mouth, eyes and ears are also deformed, making them look very spooky. The baby was born by cesarean section to a 20-year-old mother from Uttar Pradesh.

The treating doctors suspected it could be a case of consanguinity because the baby was born to a Muslim woman who was married to her cousin.

Consanguineous marriage is characterized by the degree of kinship between husband and wife.

Dr Maruti Sinha, Senior Consultant Obstetrician and Gynecologist, told Mail Today: “This is the first time we have seen a baby born with a skin defect like this. Harlequin Ichthyosis involves the defect ‘ABCA 12” gene defect.”

“So far in India, only three such cases have been reported and all died soon after birth. We cannot even confirm whether the child is a boy or a girl because of its genitalia. not yet fully developed,” she added.

Dr Sangita Nangia, head of the Department of Gynecology and medical director of Kasturba Gandhi Hospital, said that until the baby is alive, all medical support is provided.

But the survival rate for babies born with Harlequin Ichthyosis is so low that they die within hours of birth. Globally, there are also three reported cases in which the patient is alive and suffering.