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Harlequin Disorder: Nagpur Baby Born With ‘Hard Thick Skin’ Dies

She was born with ‘Harlequin Ichtyosis’, a disorder that leads to the formation of unusually hard, thick skin.

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This story has been republished with corrections.

A baby girl born in Nagpur, Maharashtra on Saturday with unusually hard thick skin caused by a rare genetic disorder, passed away on Monday. The condition is termed ‘Harlequin Ichtyosis’.

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Harlequin Ichthyosis is a rare genetic mutation in which the whole body is encased in an ‘armour’ of thick white plates of skin, separated with deep cracks.

The child was born to a farmer-couple in Wadi, at the Lata Mangeshkar Hospital. She was in the Neonatal Intensive Care Unit and was being attended to by a team of doctors.

Both the parents carried the mutated genes that causes the disorder.

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She was born with ‘Harlequin Ichtyosis’, a disorder that leads to the formation of unusually hard, thick skin.
Harlequin ichthyosis is a very rare genetic skin disease. (Photo Courtesy: Twitter/Punjab Update)
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Doctors confirmed that the baby’s internal organs were hardly visible. Her palms, fingers and toes barely developed. She had two red swabs for eyes and two holes for a nose.

The baby’s body was donated to the NKP Salve Institute of Medical Sciences (NKPSIMS) for research purposes on Monday night.

There have only been around a dozen such recorded cases in medical history since 1750.

An earlier version of this story incorrectly identified the disorder as lack of an external skin.

(With agency inputs)

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Topics:  Maharashtra   Nagpur 

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