Harlequin ichthyosis: Case report

نویسندگان

  • Shahrbanoo Salehin
  • Ahmad Azizimoghadam
  • Abdolghani Abdollahimohammad
  • Mohammad Babaeipour-Divshali
چکیده

Harlequin 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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عنوان ژورنال:

دوره 18  شماره 

صفحات  -

تاریخ انتشار 2013