The baby with a rare genetic disorder was born to a 22-year-old woman at the NKP Salve Institute of Medical Sciences (NKPSIMS) and Lata Mangeshkar Hospital (LMH) on Saturday. The congenital disorder was highly severe in the child as she was not only born with hard skin, but her internal organs were visible. Her chances of survival are uncertain, reports Hindustan Times.
There is no cure for Harlequin Ichthyosis condition, which affects one in 300,000 births. The mutation causes the thickening of the stratum corneum of the epidermis. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). Her palms, fingers and toes have barely developed. Her ears were covered, and the eyelids were hardly opening for eyeball to emerge out.
There are two reddish swabs in place of her eyes, her nose is just two holes from where she breathes, and ears are practically missing on her face.
Because of resultant cracked skin in locations where normal skin would fold, it is easily pregnable by bacteria and other contaminants, which can result in serious risk of fatal infection, Dr. Banait added.
The baby, born after a caesarean operation performed by Dr. Dixit, was kept under observation as constant care was required to moisturize and protect the skin.
Dr. Yash Banait said: "There is no skin on the body, so skin grafting is not a possibility". Doctors will undertake a 2D Echo investigation to see if there are any cardiac deformities or anomalies. "But this baby is not finding any difficulty in breathing", he said. Dr. Banait said the disorder could be diagnosed in the uterus by morphological analysis of amniotic fluid or by way of fetal skin biopsy.
There have been only around a dozen-odd such recorded cases in medical history since 1750.
The first such child was born in April 1750 in South Carolina, US, and there are reportedly around a dozen such cases recorded in that country.
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