Harlequin disorder is a very rare form of a genetic skin disease which is actually the most severe type of congenital ichthyosis. The affected human is born with a thick keratin layer of the fetal skin and an abnormal contraction of the eyes and ears.
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The term ‘harlequin’ is derived from the appearance of the skin and the triangular-shaped pattern of hyperkeratosis.The mouth of the affected newborn is pulled wide open in this condition. In addition to these deformities, the ears are absent or under-developed and the arms and the feet maybe hypoplastic.
The skin barrier results in excessive water loss, unregulated body temperature along with the risk of a life-threatening infection.
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India’s first case of Harlequin disease was witnessed on Saturday when a baby girl born to a farmer’s family in Nagpur was diagnosed with this rare genetic disorder.
She weighed 1.2 kg at birth, has two red bulges for eyes, no ears and inverted eyelids. Dr. Avinash Banait, one of the doctors from the team that delivered the baby, explained, “ Harlequin ichthyosis is a very rare severe genetic skin disease. 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.”
“Such babies are prone to infection as their internal organs are exposed. We are keeping her skin moist by applying petroleum jelly. For now, we are not sure whether she even has eye balls,” said Yash Banait, another paediatrician in the hospital. “The longest case of survival we know is of baby Shaheen who was born in 1984 in Pakistan. Her last medical records are from 2008. We are sure she survived at least till the age of 24. But normal skin never grows back in this condition,” he added.
Usually, pregnancies in these type of cases are terminated when the condition of the foetus is detected on time, but since the family in question here was below poverty line, they couldn’t afford any type of pre-natal testing. The baby is currently under medical observation.
Genetic testing is the most common and primitive form of diagnosis for Harlequin Disease which reveals the absence of function mutation on the ABCA12 gene. This particular gene is essential for the regulation of protein synthesis which is responsible for the development of the skin layer. The usual record of occurrence for this disorder is 1 in 300,000 births. God bless the famer’s family in Nagpur.