Ophthalmic Presentation of Lipoid Proteinosis in Iraqi Siblings: Case Report

Ali Nema Abushnein, Khitam Fakhir Alhasseny
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Abstract

The present study highlights the clinical manifestations, progression, and conservative treatment of lipoid proteinosis in two patients from an Iraqi family. An abnormal buildup of glycoprotein in numerous organs is known as lipoid proteinosis (LP), an autosomal recessive disorder. Hoarseness of speech, skin lesions, scars, papules that bead up around the eyelids, are all potential symptoms. Epilepsy and neuropsychiatric diseases can result from calcifications of brain tissue. In this paper, two cases of 13 and 15-yearold Iraqi family siblings (born to consanguineous parents) are reported. They were presented to Ibn Al-Haithem Hospital with hoarseness and characteristic symptomatic moniliform eyelid lesions. Biopsy confirmed the diagnosis. Though ocular involvement in LP is rare, ophthalmologists may encounter diverse ocular complications. With the exception of possible acute respiratory or neurological sequelae, the disease runs a slowly progressive but otherwise benign course. The rarity of this disease motivated this report.
伊拉克兄弟姐妹中脂质蛋白沉积症的眼科表现:1例报告
本研究重点介绍了来自伊拉克一个家庭的两例脂质蛋白沉积症患者的临床表现、进展和保守治疗。糖蛋白在许多器官中的异常积聚称为脂质蛋白沉积症(LP),这是一种常染色体隐性遗传病。说话声音嘶哑、皮肤损伤、疤痕、眼睑周围的丘疹都是潜在的症状。癫痫和神经精神疾病可由脑组织钙化引起。本文报告了两例13岁和15岁的伊拉克家庭兄弟姐妹(由近亲父母所生)。他们以声音嘶哑和眼睑鳞状病变的特征性症状被送至Ibn Al-Haithem医院。活检证实了诊断。虽然LP的眼部受累是罕见的,但眼科医生可能会遇到各种眼部并发症。除可能出现急性呼吸道或神经系统后遗症外,本病病程缓慢进展,但其他方面为良性病程。这种疾病的罕见性促使了这份报告。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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