Urbach-Wiethe disease (lipoid proteinosis).
Urbach-Wiethe disease (lipoid proteinosis).
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Urbach-Wiethe 病（类脂蛋白沉积症）。
DOI：
10.4103/0377-4929.101749
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发表时间：
2012
影响因子：
1
通讯作者：
C. Bicakci
中科院分区：
文献类型：
--
作者：
U. Kucuk;I. Erdoğan;U. Bayol;Nazife Hacioglu;I. Cukurova;C. Bicakci
类脂蛋白沉积症是一种罕见的常染色体隐性遗传病，其严重程度各异，可能累及皮肤、上呼吸道粘膜和内脏器官，根据受累部位可能表现出不同的临床表现。一名34岁男性患者因自幼出现声音嘶哑，近年来病情加重而入院。皮肤科检查发现双手和肘部的浅棕色乳头状皮肤病变长期存在。喉内镜检查发现粘膜广泛增厚且不规则。显微镜检查发现真皮和粘膜下区域有酸性希夫（PAS）阳性、刚果红阴性的嗜酸性透明物质沉积。最终诊断为类脂蛋白沉积症，累及皮肤和喉部。这一典型病例的报道提醒人们注意，类脂蛋白沉积症应纳入儿童声音嘶哑患者的鉴别诊断中。
Lipoid proteinosis is a rare autosomal recessive disorder of variable severity that may involve the skin, mucous membranes of the upper respiratory tract and internal organs that may display different clinical manifestations based on the site of involvement. A 34-year-old male patient was admitted to our hospital with a complaint of hoarseness present since childhood but had worsened in recent years. A dermatological examination revealed light brown papillomatous skin lesions on the dorsum of both hands and elbows present for a long duration. Endoscopic examination of the larynx revealed widespread mucosal thickening and irregularity. Microscopic examination revealed acid Schiff (PAS) positive, Congo red negative eosinophilic hyaline material deposits in the dermis and submucosal regions. The final diagnosis was lipoid proteinosis with skin and larynx involvement. This typical case has been reported to draw attention to the fact that lipoid proteinosis should be included in the differential diagnosis of patients presenting with hoarseness in childhood.