中国麻风皮肤病杂志 ›› 2021, Vol. 37 ›› Issue (10): 661-662.doi: 10.12144/zgmfskin202110661

• 病例报告 • 上一篇    下一篇

IIb型家族性高胆固醇血症性黄瘤病一例

曹珊,周桂芝,杨宝琦   

  1. 山东第一医科大学附属皮肤病医院（山东省皮肤病医院，山东省皮肤病性病防治研究所），济南，250022
  • 出版日期:2021-10-25 发布日期:2021-08-31
  • 通讯作者: 杨宝琦，E-mail: baoqiyang@126.com

Familial hypercholesterolemic xanthomatosis: a case report

CAO Shan, ZHOU Guizhi, YANG Baoqi   

  1. Shandong Provincial Hospital for Skin Diseases & Shandong Provincial Institute of Dermatology and Venereology, Shandong Frist Medical University, Jinan 250022, China
  • Online:2021-10-25 Published:2021-08-31
  • Contact: YANG Baoqi, E-mail: baoqiyang@126.com

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摘要： 患儿，女，2岁。双侧臀横纹皮肤黄色丘疹半个月。父母及患儿血脂均升高。患儿皮损组织病理检查：真皮层见大量泡沫状细胞聚集。综上诊断为IIb型家族性高胆固醇血症性黄瘤病。给予口服烟酸及降血脂治疗。目前仍在随访中。

关键词: 黄瘤病, 高胆固醇血症, 家族性, IIb型

Abstract: A 2-year-old girl presented with yellow papules on both hips for half month. The blood biochemistry of the girl and her patients showed hyperlipidemia. Histopathological examination revealed extensive foam cells aggregation in dermis. This patient was diagnosed as type IIb familial hypercholesterolemic xanthomatosis and treated with oral niacin and hypolipidemic. The patient is  followed up.

Key words: xanthomatosis, hypercholesterolemia, familial, type IIb