中国麻风皮肤病杂志 ›› 2022, Vol. 38 ›› Issue (10): 695-700.doi: 10.12144/zgmfskin202210695

• 论著 • 上一篇    下一篇

毛囊角化病合并疣状肢端角化症二例临床及基因检测分析

张帆,周桂芝,裴振环,刘红,张福仁   

  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:2022-10-15 发布日期:2022-08-22

Clinical analysis and genomic detection in two cases of keratosis follicularis complicated with acrokeratosis verruciformis

ZHANG Fan, ZHOU Guizhi, PEI Zhenhuan, LIU Hong, ZHANG Furen   

  1. Shandong Provincial Hospital for Skin Diseases & Shandong Provincial Institute of Dermatology and Veneorology, Shandong First Medical University & Shandong Academy of Medical Sciences, Jinan 250022, China
  • Online:2022-10-15 Published:2022-08-22

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摘要： 报道2例毛囊角化病合并疣状肢端角化症并复习相关文献。两例患者临床均表现为手足多发疣状丘疹，都有明确家族史。对两例患者行基因检测均发现了ATP2A2的异常突变。经过文献复习后发现毛囊角化病与疣状肢端角化症两者之间的关系不能明确，需要进一步遗传学研究。

关键词: 毛囊角化病, 疣状肢端角化症, ATP2A2

Abstract: Two cases of keratosis follicularis complicated with acrokeratosis verruciformis were reported and the related literatures were reviewed in this paper. Two patients presented with multiple verrucous papules on the hands and feet, both had family history. Abnormal mutations of ATP2A2 were found through gene detection in both patients. After reviewing the literature, it is found that the relationship between keratosis follicularis and Acrokeratosis verruciformis is unclear, and further genetic research is needed.

Key words: keratosis follicularis, acrokeratosis verruciformis, ATP2A2