类脂蛋白沉积症：4例同胞病例报告及文献简要综述

Lipoid proteinosis: report of four siblings and brief review of the literature.

作者信息

Nanda A, Alsaleh Q A, Al-Sabah H, Ali A M, Anim J T

机构信息

Asad' Al-Hamad Dermatology Center, Department of Ear, Nose and Throat, Al-Sabah Hospital, and Faculty of Medicine, Kuwait University, Kuwait.

出版信息

Pediatr Dermatol. 2001 Jan-Feb;18(1):21-6. doi: 10.1046/j.1525-1470.2001.018001021.x.

DOI:10.1046/j.1525-1470.2001.018001021.x

PMID:11207965

Abstract

Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal recessive disorder associated with deposition of periodic acid-Schiff (PAS)-positive hyaline material in various tissues including skin, mucous membranes, and internal organs. A family is reported in which four siblings (two boys and two girls) born to nonconsanguineous parents had lipoid proteinosis. All had the characteristic hoarseness of voice and three had skin lesions. The diagnosis was confirmed by the presence of typical features on light and electron microscopy.

摘要

类脂蛋白沉积症（乌尔巴赫-维特病）是一种罕见的常染色体隐性疾病，与高碘酸-希夫（PAS）阳性透明物质在包括皮肤、黏膜和内脏器官在内的各种组织中的沉积有关。据报道，一个家庭中，非近亲结婚的父母所生的四个兄弟姐妹（两男两女）患有类脂蛋白沉积症。他们都有典型的声音嘶哑症状，三人有皮肤损害。通过光镜和电镜下的典型特征确诊。