Lipoid proteinosis. A report of 2 siblings and a brief review of the literature.
نویسنده
چکیده
Lipoid proteinosis is a rare autosomal recessive inherited metabolic disorder characterized by deposition of a hyaline-like material in the skin, oral laryngeal mucosa, and in other sites. In this report, the author describes 2 Saudi siblings who had characteristic skin findings, oral and mucosal lesions, histological findings along with few rarely encountered manifestations including pathognomonic calcifications in the hippocampus, electroencephalogram findings and briefly reviews the literature. These cases are presented to emphasize the occurrence of this condition in Saudi Arabia, and to update information on the latest developments of this disorder.
منابع مشابه
Lipoid proteinosis: Report of three cases in one family
Lipoid proteinosis, a rare autosomal recessive disorder, presents in early childhood with hoarseness, skin infiltration and thickening, beaded papules on eyelid margins, and facial acneiform or pock- like scars. Although
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ورودعنوان ژورنال:
- Saudi medical journal
دوره 29 8 شماره
صفحات -
تاریخ انتشار 2008