中国麻风皮肤病杂志 ›› 2026, Vol. 42 ›› Issue (10): 740-742.doi: 10.12144/zgmfskin202610740

• 病例报告 • 上一篇    下一篇

类脂蛋白沉积症一例

赵文蕾1,刘家辉1,杨登科2   

  1. 1临沧市人民医院，云南临沧，677000；2 昆明市中医医院，云南昆明，650011
  • 出版日期:2026-10-15 发布日期:2026-10-09

Lipoid proteinosis: a case report

ZHAO Wenlei1, LIU Jiahui1, YANG Dengke2   

  1. 1 Lincang People's Hospital, Lincang 677000, China; 2 Kunming Hospital of Traditional Chinese Medicine, Kunming 650011, China
  • Online:2026-10-15 Published:2026-10-09

PDF (PC)

50

摘要： 类脂蛋白沉积症（lipoid proteinosis，LP），又称Urbach-Wiethe病，以黏膜、皮肤、中枢神经系统和身体其他部位异常透明物质沉积为特征，是一种罕见常染色体隐性遗传病，本文报道一例。患儿，男，9岁，声音嘶哑9年，双眼睑串珠样丘疹1年。皮肤科查体: 双眼睑可见密集串珠样半透明丘疹，双肘部伸侧、额部和背部褐色色素沉着斑及萎缩性疤痕；双手指两侧肤色丘疹；舌部、黏膜、上颚可见黄白色斑块，舌体增厚，牙齿发育异常。组织病理示真皮可见无定形物质沉积。诊断：类脂蛋白沉积症。未行基因检测。

关键词: 类脂蛋白沉积症

Abstract: Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare autosomal recessive hereditary disorder characterized by abnormal deposition of hyaline substances in the mucous membranes, skin, central nervous system and other bodily organs. A case of this disease is reported herein. The patient was a 9-year-old boy presenting with a 9-year history of hoarseness and a 1-year history of beaded papules on both eyelids. Dermatological physical examination revealed dense, beaded translucent papules on bilateral eyelids; brown hyperpigmented macules and atrophic scars on the extensor sides of both elbows, forehead and back; skin-colored papules on bilateral lateral fingers. Yellowish-white plaques were observed on the tongue, oral mucosa and hard palate, accompanied by tongue hypertrophy and abnormal dental development. Histopathological examination demonstrated amorphous substance deposition within the dermis.The diagnosis of lipoid proteinosis was made. Genetic testing was not performed in this case.

Key words: lipoid proteinosis