Is it always blepharitis? Urbach-Wiethe syndrome (lipoid proteinosis)

ABSTRACT A 12-year-old girl presented with recurrent crusty debris and dandruff at the base of both eyelashes despite having completed different medical treatments. She had had a hoarse voice since her early childhood. Upon anterior segment examination of the eyes, we found yellow-white, bead-like papules on the margins of the eyelids. An otolaryngologist detected multiple nodules on the vocal cords and buccal mucosa. Ultrasonography revealed salivary stones in the main parotid ducts. And a dermatological examination revealed thickened skin lesions on the elbows and knees with a biopsy showing histopathological findings of lipoid proteinosis. We diagnosed the patients as having Urbach-Wiethe syndrome or lipoid proteinosis, a rare autosomal recessive multisystem disorder with variable manifestations vary that difficult the diagnosis. The ocular manifestations are not well known among ophthalmologists, but the typical lid lesions are pathognomonic and ophthalmologists should be aware of this presentation to identify patients with Urbach-Wiethe syndrome.

摘要 一名12岁女性患者，尽管已接受多种药物治疗，但双侧睫毛根部仍反复出现结痂性分泌物及类似头屑的鳞屑。患者自幼即有声嘶症状。眼科眼前节检查显示，其眼睑缘存在黄白色珠状丘疹。耳鼻喉科医师检查发现其声带及颊黏膜多发结节。超声检查提示腮腺主导管内存在涎石。皮肤科检查可见肘膝部位增厚性皮损，活检组织病理学检查显示符合脂质蛋白沉积症（lipoid proteinosis）的特征。我们据此诊断该患者为Urbach-Wiethe综合征（Urbach-Wiethe syndrome），亦称脂质蛋白沉积症。该病是一种罕见的常染色体隐性多系统疾病，临床表现多样，诊断难度较大。目前眼科医师对其眼部表现的认知度仍较低，但典型的眼睑皮损具有确诊特异性，眼科医师应警惕此类临床表现，以便识别出Urbach-Wiethe综合征患者。