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

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

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。

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.