HIGHLIGHTS
Harlequin Ichthyosis affects one in 3 million births
This skin disorder involves an ABCA 12 gene defect
Till date, there is no treatment for this disorder
Delhi's first reported case of a baby born with Harlequin Ichthyosis, a rare genetic skin disorder died on Tuesday after developing respiratory problems at Kasturba Gandhi Hospital in Daryaganj.
Harlequin Ichthyosis literally means one born with dry, scaly 'fish' like skin. It affects one in 300,000 births by inheriting a mutated gene from the parents.
Infants with this condition have very hard, thick skin covering most of their bodies. This is broken into large, diamond-shaped plates separated by deep cracks (fissures).
The facial features mouth, eyes and ears are also deformed giving them a ghastly appearance. The baby was born through a C-section delivery to a 20-year-old mother hailing from Uttar Pradesh.
The treating doctors suspect it is a possible case of consanguinity as the baby was born to a Muslim woman who married her cousin.
A consanguineous marriage is characterized by the degree of relatedness between the spouses.
Dr Maruti Sinha, Senior Consultant Obstetrician and Gynaecologist told Mail Today, "It is for the first time we have witnessed a baby born with this skin deformity. Harlequin Ichthyosis involves an 'ABCA 12' gene defect."
"Till date in India, only three such cases have been reported and they all died soon after birth. We can't even confirm if the baby is a boy or girl as its genital organs haven't fully developed," she added.
Dr Sangita Nangia, head of Gynaecology unit and medical director of Kasturba Gandhi Hospital said till the time the baby was alive, all medical support was provided.
But survival rate is so less in babies born with Harlequin Ichthyosis that they die within few hours of birth. Globally, there are also three cases reported wherein patients are alive and suffering.