Harlequin Baby born in India for the first time
A female infant with a severe genetic disorder and near-total missing external body skin, was born here early on Saturday, a doctor said.
“It’s the first ‘Harlequin Baby’ in the country. The infant is born blind and the chances of her survival are uncertain,” said paediatrician Dr Yash A. Banait, who was involved in the rare delivery along with obstetrician-gynaecologist Dr Prachi Dixit.
Born around 12.45 a.m. at Lata Mangeshkar Hospital, the first child to a farmer-couple from Wadi, the child is currently in the NICU and being attended by a team of medicos who were conducting a series of tests and investigations on the baby.
The child presents a sad picture with large parts of her body without skin and internal organs visible. Her palms, fingers and toes have barely developed.
There are two reddish swabs in place of her eyes and her nose is just two holes from where she breathes and ears are practically missing on her face.
Dr Yash Banait said such children have severely cracked skin which makes it difficult to maintain body temperature and they become prone to infections.
Renowned paediatrician Dr Avinash Banait said there was a similar case in Bastar, Chhattisgarh in 2014, but it would not be medically proved.
Besides this, 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.
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.
Another such male child was born in 2013 to a woman in South Africa and was given a slim survival chance, but lived more.
It is a really uncommon extreme genetic pores and skin illness, which causes thickening of the stratum corneum of the dermis. It’s a kind of autosomal recessive congenital ichthyosis, which is a heterogeneous group of nonsyndromic problems of keratinization. The general incidence of Harlequin ichthyosis is 1 in 300,000 births. At start, the kid’s complete physique is encased in an ‘armour’ of thick white plates of pores and skin, separated with deep cracks. As well as, the eyes, ears, penis, and the appendages could also be abnormally contracted. Due to resultant cracked pores and skin in places the place regular pores and skin would fold, it’s simply pregnable by micro organism and different contaminants, which can lead to severe threat of deadly an infection. Fixed care is required to moisturise and shield the pores and skin.
The harlequin-type designation comes from the diamond form of the scales at start (resembling the costume of Arlecchino), attributable to extreme hyperkeratosis. The illness will be identified within the uterus by the use of fetal pores and skin biopsy or by morphologic evaluation of amniotic fluid cells obtained by amniocentesis. Medical doctors can now normally acknowledge widespread options of the illness via ultrasound, and observe up with 3D ultrasound to diagnose the situation. Ultrasound can reveal irregular facial options with ectropion, eclabium, quick foot size, incurved toes, clenched fists, poor delineation of nostrils, and polyhydramnios.
It’s related to a mutation within the gene for the protein