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Harlequin ichthyosis: Case report
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نویسنده
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Salehin Shahrbanoo ,Azizimoghadam Ahmad ,Abdollahimohammad Abdolghani ,Babaeipour-Divshali Mohammad
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منبع
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journal of research in medical sciences - 2013 - دوره : 18 - شماره : 11 - صفحه:1004 -1005
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چکیده
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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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کلیدواژه
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ABCA12 gene mutation ,autosomal recessive ,skin abnormalities
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آدرس
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zabol university of medical sciences, Department of Midwifery, ایران, zabol university of medical sciences, Department of Midwifery, ایران, zabol university of medical sciences, Department of Nursing, ایران, zabol university of medical sciences, Department of Nursing, ایران
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Authors
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