眼部表现为串珠样丘疹的类脂质蛋白沉积症二例
摘要
<正>病例1男性,9岁。以双眼睑丘疹样改变3年伴自幼声音嘶哑就诊。既往无全身其他系统疾患,足月顺产。眼科检查:视力:右眼0.7,左眼0.8,眼压正常,双眼睑缘呈串珠丘疹样改变,密集排列,灰白半透明,直径2～10 mm,上睑为著,睫毛杂乱生长于串珠样结构之间(图1)。眼前节及眼底未见明显异常,无眼睑闭合不全。全身检查:面部多发小的凹陷性疤
引文
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[6]谢勇,郑和义,方凯,等.类脂蛋白沉积症1例.临床皮肤科杂志,2002,31(1):43-44.
[2]Hamada T,Mclean WH,Ramsay M,et al.Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene(ECM1).Hum Mol Genet,2002,11(7):833-840.
[3]Liu W,Xu W,Yang X,et al.A novel missense mutation of the ECM1 gene in a Chinese patient with lipoid proteinosis.Clin Exp Dermatol,2012,37(1):28-30.
[4]Wang CY,Zhang PZ,Zhang FR,et al.New compound heterozygous mutations in a Chinese family with lipoid proteinosis.Br JDermatol,2006,155(2):470-472.
[5]Acar A,Eryilmaz A,Gocer C,et al.Lipoid proteinosis of larynx:review of four cases.Int J Pediatr Otorhinolaryngol,2004,68(12):1557-1561.
[6]谢勇,郑和义,方凯,等.类脂蛋白沉积症1例.临床皮肤科杂志,2002,31(1):43-44.