Maharashtra reports India’s 1st case of Harlequin Ichthyosis

 Harlequin IchthyosisWith the birth of a baby girl in Nagpur, India has reportedly recorded its first ever case of a baby born with a rare genetic disorder called ‘Harlequin Ichthyosis‘. The disease, which affects 1 in 3 lakh babies, causes thickening of the skin all over the body with cracks in between and makes babies prone to infection.

The infant was born pre-term to a 23-year-old woman belonging to a farmer family at Lata Mangeshkar Hospital in Nagpur. She has been kept under observation at the hospital. The infant girl has two reddish swabs in place of eyes on the face. She has no ears while there are two holes as nose from where she is breathing. Her fingers, toes and palms haven’t developed yet.

Harlequin Ichthyosis is a very rare severe genetic skin disease that cause 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.

There have been only a dozen Harlequin Ichthyosis cases reported worldwide since 1775. In 1984, a harlequin child, Nusrit Shaheen, was born in Pakistan and her other siblings were also reported to have suffered from the same condition. All of them died at an early age.

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