Lipoid proteinosis (LP) is a rare autosomal recessive multisystem disorder that is caused by loss-of-function pathogenic variants in the extracellular matrix protein-1 (ECM1) gene. The typical clinical manifestations of LP include hoarseness of voice, beaded papules on the eyelids, infiltration and scarring of the skin and mucosa, as well as neuropsychological abnormalities. Currently, more than 70 pathogenic variants have been reported, including nonsense, missense, splice site, deletion and insertion pathogenic variants, and more than half of them occurred in exons 6 and 7.

中文翻译：

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类脂蛋白沉积症：四个不相关的阿拉伯家庭的新型 ECM1 致病变异和家族内变异

类脂蛋白沉积症 (LP) 是一种罕见的常染色体隐性遗传多系统疾病，由细胞外基质蛋白 1 ( ECM1 ) 基因的功能丧失性致病变异引起。LP的典型临床表现包括声音嘶哑、眼睑珠状丘疹、皮肤粘膜浸润和瘢痕形成以及神经心理异常。目前，已报道的致病变异超过70种，包括无义、错义、剪接位点、缺失和插入致病变异，其中超过一半发生在外显子6和7。