• J Res Med Sci · Nov 2013

    Case Reports

    Harlequin ichthyosis: Case report.

    • Shahrbanoo Salehin, Ahmad Azizimoghadam, Abdolghani Abdollahimohammad, and Mohammad Babaeipour-Divshali.
    • Department of Midwifery, Zabol Medical Sciences University, Zabol, Iran.
    • J Res Med Sci. 2013 Nov 1; 18 (11): 1004-5.

    AbstractHarlequin fetus is a rare and the most severe form of the congenital ichthyosis with an autosomal recessive inheritance. Incidence of the disease is nearly 1 in 3,00,000 live births. The disease might be lethal at birth and the affected babies are often premature. Harlequin ichthyosis (HI) is marked by severe keratinized and alligator-like horned skin. The present study reports a new case with HI and adds to the collective knowledge of this rare skin disorder. HI has been linked to mutation in the ABCA12 gene; therefore, genetic counseling and mutation screening of this gene should be considered.

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