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类脂蛋白沉积症:三例同胞病例报告。

Lipoid proteinosis: report of three siblings.

作者信息

Nasiri Soheila, Sarrafi-Rad Nima, Kavand Sima, Saeedi Marjan

机构信息

Skin Research Center, Shahid Beheshti University, MC Shohada-e Tajrish Hospital, Tehran, Iran.

出版信息

Dermatol Online J. 2008 Nov 15;14(11):6.

Abstract

Lipoid proteinosis is a very rare genodermatosis characterized by infiltration of hyaline material into the skin, oral cavity, larynx and internal organs. It usually presents in infancy with hoarseness. Although about 300 cases have been reported in the literature, the occurrence of the disease is rare in siblings. In this report we introduce three siblings with this disease.

摘要

类脂蛋白沉积症是一种非常罕见的遗传性皮肤病,其特征是透明物质浸润皮肤、口腔、喉部和内脏器官。它通常在婴儿期出现,表现为声音嘶哑。尽管文献中已报道约300例病例,但该病在兄弟姐妹中发病罕见。在本报告中,我们介绍了三名患有此病的兄弟姐妹。

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