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类脂蛋白沉积症:三例家族性病例报告。

Lipoid proteinosis: report of three familial cases.

作者信息

Ehsani Amir H, Ghiasi Maryam, Robati Reza Mahmoud

机构信息

Tehran University of Medical sciences, Razi Hospital, Tehran, Iran.

出版信息

Dermatol Online J. 2006 Jan 27;12(1):16.

Abstract

Lipoid proteinosis is a rare autosomal recessive disorder; it presents in early childhood with hoarseness, skin infiltration and thickening with beaded papules on eyelid margins, and facial acneiform or pock-like scars. Although 250 cases have been reported until now, the occurrence of disease in siblings is very rare. We report three familial cases of lipoid proteinosis involving a brother and sister and their nephew.

摘要

类脂蛋白沉积症是一种罕见的常染色体隐性疾病;它在儿童早期出现,表现为声音嘶哑、皮肤浸润和增厚,眼睑边缘有串珠状丘疹,以及面部痤疮样或痘疮样瘢痕。尽管迄今为止已报道了250例病例,但兄弟姐妹中发病的情况非常罕见。我们报告了3例类脂蛋白沉积症的家族病例,涉及一对兄妹及其侄子。

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