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
Link To Document :
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