Harlequin ichthyosis - a case report and review of literature

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Dr. Kaushal Manila
Dr. Dr. Dave Anupama
Dr. Thora Sharad
Dr. Chouksey Shikha



Harlequin ichthyosis (HI) is the most severe form of congenital ichthyosis with an incidence of one in 300,000 births. An autosomal recessive pattern of inheritance is seen in this disorder. However, a new autosomal dominant mutation may possibly be responsible. The disorder has an ominous prognosis since the neonates usually die in the first few hours or days of life. Given the rare nature of the disease we report here; a case of harlequin foetus with a history of same in last pregnancy and family. A review of the literature of the management of HI during the perinatal period is also presented.

Keywords: Harlequin ichthyosis, Perinatal care, Scales

Published Dec 31, 2015

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