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*Chinchumol Baby


Harlequin Ichthyosis’s history begins on 5 April 1750, when Reverend Oliver Hart—a cleric from Charleston, South Carolina—became the first to document the condition. Harlequin ichthyosis (HI) is a severe skin disease which leads to neonatal death in ∼50% of cases. It is the result of mutations in ABCA12, a protein that transports lipids required to establish the protective skin barrier needed after birth. Infants are very susceptible to metabolic abnormalities and infections. Although mortality is high, improved treatments have allowed some with HI to survive into their third and fourth decades. Patients affected by this disease lose the permeability of their skin, which is responsible for the protection against transepidermal water loss by evaporation and against bacterial and chemical agents or mechanical aggression. The consequence of the protective barrier’s breakdown in childhood can cause susceptibility to secondary infections. Improvements in neonatal care, combined with the use of topical retinoids such as Isotrex which enable the skin to shed cells faster than they are produced, are helping to make Harlequin Ichthyosis a chronic condition rather than a fatal disease. In year 2013, 20-year-old Stephanie Turner— who herself was born with the disorder—gave birth to a perfectly healthy baby boy. Recently a harlequin baby was born in Nagpur on 12th june 2016 and dies after two days of birth. Treatment with oral retinoids encourages shedding of the grossly thickened skin.

Keywords: Harlequin Ichthyosis, ABCA12, autosomal recessive, retinoids.

[Full Text Article]

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