Title of article
Case report of harlequin ichthyosis who had similar history in two earlier siblings
Author/Authors
Rasul, Shazia Shalamar Medical Dental College - Department of Obstetrics Gynecology, Pakistan , Gul, Asma Shalamar Medical Dental College - Departments of Obstetrics Gynecology, India , Tahir, Shabnum Shalamar Medical Dental College - Departments of Obstetrics Gynecology, Pakistan , Hameed, Abdul Defence Skin Laser Center, Pakistan
From page
369
To page
370
Abstract
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.
Journal title
Journal of Pakistan Association of Dermatologists
Journal title
Journal of Pakistan Association of Dermatologists
Record number
2636238
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