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In what could be termed as the country's first known case, a 23-year-old woman gave birth to a baby girl with a severe genetic disorder called Harlequin Ichthyosis which mainly affects the skin.

Paediatrician Dr. Yash Banait said the tragic baby was born with the congenital disorder which would mean the baby will need lifelong treatment to moisturise her outer body. Her chances of survival are uncertain, reports Hindustan Times. After that, there have been only a few dozen cases of Harlequin babies in the U.S. The overall rate of incidence for Harlequin ichthyosis is 1 in 300,000 births. The mutation causes the thickening of the stratum corneum of the epidermis. The plates are separated with deep cracks.

The Harlequin baby's toes, palms and fingers haven't fully developed. Her ears were covered, and the eyelids were hardly opening for eyeball to emerge out. The baby also doesn't have a fully developed nose and breathes through two holes where the nose would have been. This process is not possible on babies with the condition because of which they are very prone to infections. And her eyes are nothing more than two reddish swabs.

She has been kept under observation as constant care is required to keep her skin moisturized and protected.

"Doctors will be undertaking a 2D Echo investigation to ascertain the cardiac deformities or anomalies if any".

Dr. Yash Banait said: "There is no skin on the body, so skin grafting is not a possibility".

According to Dr Banait, the disease can be diagnosed in the uterus by way of fetal skin biopsy or by morphological analysis of amniotic fluid cells obtained by amniocentesis.

The first such child was born in April 1750 in South Carolina, US, and there are reportedly around a dozen such cases recorded in the country.

 

One such child Nusrit Shaheen was born in 1984 to a Pakistani woman and four of her children had the same disorder and succumbed at an early age. "All that medical science can do is try to keep the baby alive".


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