类脂蛋白沉积症一例

摘要：患者男，34岁，哈萨克族人，身上起皮疹伴声音沙哑20余年。体检：心、肺、腹部检查无阳性体征。声音嘶哑明显。毛发稀疏，头皮、面、颈部皮肤可见粟粒大小的肤色丘疹弥漫分布，表面光滑，呈蜡样，可见瘢痕改变，眼睑增厚，睫毛稀疏，睑缘可见串珠状蜡样丘疹。双肘、臀部可见对称分布的疣状增生的肥厚性浸润性粉红色结节或斑块，呈脑回状。鼻咽喉镜示：双侧声带增生性肥厚，会厌表面不规则增厚而不光滑。口咽粘膜可见弥漫性淡黄色沉积物，表面凹凸不平。活检组织病理：（肘部和会厌）真皮全层或粘膜固有层可见弥漫的均质红染的透明样物质沉积，血管周围可见同样物质沉积。PAS染色：透明样物质强阳性，甲紫及刚果红染色：阴性。诊断：类脂蛋白沉积症。

Lipoid proteinosis: a case report

Abstract: We report a case of lipoid proteinosis.An 34-year-old Hazakh man, born to unrelated parents, presented with skin eruptions on the body accompanied by hoarseness of unknown origin for more than 20 years. Positive signs of Heart, lung, and abdomen was not found with physical examination. Hoarseness was Obvious. Miliary-sized papules can be seen diffusely on the scalp, face, and neck with sparse hair. Most papules were skincoloured, smooth., and wax. Scarring can be seen. Eyelid thickening, Sparse eyelashes, and beaded wax papulosis in the eyelid margins were also evident. There were symmetric, verrucous hyperplastic, hypertrophic, invasion, pink or color nodule or plaque on elbow and hip. The patient underwent nasopharyngeal laryngoscopy, on account of severe hoarseness, which showed irregular thickening of the vocal cords and epiglottis, and pale yellow hyaline deposits in the larynx, epiglottis and oropharynx. The histopathology of elbow and epiglottis revealed massive deposits of homogeneous, eosinophilic, hyaline-like material in the dermis full-thickness, lamina propria, with perivascular deposits. The material was strongly PAS positive and diastase resistant, with crystal violet negative and congo red negative.