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Case report of harlequin ichthyosis who had similar history in two earlier siblings
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نویسنده
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Rasul Shazia ,Gul Asma ,Tahir Shabnum ,Hameed Abdul
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منبع
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journal of pakistan association of dermatologists - 2014 - دوره : 24 - شماره : 4 - صفحه:369 -370
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چکیده
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Harlequin ichthyosis is the most severe form of congenital ichthyosis. it is a rare autosomal recessive disorder. the skin development is altered in utero due to defective lipid metabolism in lamellar granules of the keratinocytes. lack of desquamation and massive accumulation of scales lead to the characteristic morphological features. we report a case of harlequin ichthyosis that had a history of similar affection in two earlier siblings and two siblings are absolutely normal.
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آدرس
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Shalamar Medical & Dental College, Department of Obstetrics & Gynecology, Pakistan, Shalamar Medical & Dental College, Departments of Obstetrics & Gynecology, India, Shalamar Medical & Dental College, Departments of Obstetrics & Gynecology, Pakistan, Defence Skin & Laser Center, Pakistan
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Authors
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