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India's first 'Harlequin' baby born in Nagpur

By: iam_zain | Posted Jun 13, 2016 | General | 9678 Views

A female infant with a severe congenital disorder and near-total missing external body skin, was born at Lata Mangeshkar Medical College and Hospital on Saturday, Deccan Chronicle reported.


In medical terms, this condition is called Harelquin Ichthyosis.


"Harlequin ichthyosis is a very rare severe genetic skin disease, which causes thickening of the stratum corneum of the epidermis. In such cases, the child's whole body is encased in an'armour' of thick white plates of skin, separated with deep cracks. In addition, the eyes, ears, private parts and the appendages may be abnormally contracted," noted obstetrician and gynaecologist Dr Avinash Banait.


This congenital disorder occurs due to mutation of genes and is as rare as 1 in 3 lakh births, he acknowledged.


Owing to the cracked skin in locations where normal skin would fold, it is vulnerable to bacteria and other contaminants, that may result in serious risk of fatal infection, Dr Banait added.


The baby has been kept under observation since constant care is required to moisturise and protect the skin.


?There is no skin on the body, so skin grafting is not a possibility. But the baby hasn?t developed any breathing problems lest she would have required to be kept on ventilation,? said Dr Banait.


"Doctors will be undertaking a 2D Echo investigation to ascertain the cardiac deformities or anomalies if any. The baby requires proper moisturisation and petroleum jelly and coconut oil serves good for this. Nutritional rehabilitation has to be undertaken regularly. But this baby is not finding any difficulty in breathing," he said.


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


Doctors can now usually recognise common features of the disease through ultrasound and follow up with 3D ultrasound to diagnose the condition.


"Ultrasound can reveal abnormal facial features with ectropion, eclabium, short foot length, incurved toes, clenched fists, poor delineation of nostrils, and polyhydramnios," he said.


The disorder has no cure and medical science can only help keep the person alive, he added.


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