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Lipoid Proteinosis presenting as beaded papules of the eyelid: report of three cases

机译:脂质蛋白质发球作为眼睑的串珠丘疹:三种情况的报告

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Lipoid proteinosis (LP) is a rare multisystem inherited disease. We report here?in three LP cases with beaded papules of the eyelid. Their clinical presentations, histological characteristics, and genetic findings are described and discussed. A 12-year-old boy reported to our hospital with a complaint of ocular irritation, redness, and tearing for two years. He had a history of hoarseness since childhood. His younger brother (5?years old) also complained of hoarseness. Another patient, a 26-year-old woman, described many beaded papules on the edge of her eyelids since age 11?years. She additionally reported hoarseness since 4?years of age. Careful slit-lamp examination in these cases revealed waxy beaded papules on the margins of both eyelids and mild conjunctival congestion. Physical examination showed irregular, rugged scars on their facial skin. Genetic analysis showed the mutation located in exon 6 of the ECM1 gene. Three LP cases first diagnosed by ophthalmologists are presented. The presence of eyelid papules should prompt the ophthalmologist to pay close attention to the patient’s voice. If there is a definite history of hoarseness, these patients should undergo gene sequence analysis. If necessary, otorhinolaryngology and dermatology consults may help confirm the diagnosis. Treatment is primarily symptomatic to improve patients’ quality of life.
机译:脂蛋白蛋白质缺失(LP)是一种罕见的多系统遗传疾病。我们在此报告?在三个LP案件中,眼睑的串珠丘疹。描述并讨论了它们的临床介绍,组织学特征和遗传发现。一名12岁的男孩向我们的医院报告,抱怨眼镜刺激,发红,撕裂了两年。他自童年以来的嘶哑历史。他的弟弟(5?岁月)也抱怨了嘶哑。另一位患者是一个26岁的女性,在11岁以来她的眼睑边缘描述了许多串珠丘疹。年。她又报告了自4岁以来的嘶哑。在这些情况下仔细裂隙灯检查发现两眼皮和轻度结膜充血的边缘糯串珠丘疹。体检表明它们的面部皮肤上不规则,崎岖的疤痕。遗传分析显示位于ECM1基因外显子6中的突变。提出了由眼科医生诊断的三种LP病例。眼睑丘疹的存在应提示眼科医生密切关注患者的声音。如果有明确的嘶哑历史,这些患者应经历基因序列分析。如有必要,Otorhinolaryngology和皮肤科咨询可能有助于确认诊断。治疗主要是对症状改善患者的生活质量。

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