Title of article
Harlequin ichthyosis: Case report
Author/Authors
Salehin, Shahrbanoo Departments of Midwifery - Nursing - Zabol Medical Sciences University, Zabol , Azizimoghadam, Ahmad Departments of Midwifery - Nursing - Zabol Medical Sciences University, Zabol , Abdollahimohammad, Abdolghani Departments of Midwifery - Nursing - Zabol Medical Sciences University, Zabol , Babaeipour-Divshali, Mohammad Departments of Midwifery - Nursing - Zabol Medical Sciences University, Zabol
Pages
2
From page
1004
To page
1005
Abstract
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.
Keywords
ABCA12 gene mutation , autosomal recessive , skin abnormalities
Journal title
Astroparticle Physics
Serial Year
2013
Record number
2432457
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