由AQP5基因突变导致Bothnian型掌跖角化病1例  

Palmoplantar Keratoderma Bothnian Type Caused by AQP5 Gene Mutation:A Case Report

作　　者：韩宏敏 韩建文[1] HAN Hongmin;HAN Jianwen(Department of Dermatology,the Affiliated Hospital of Inner Mongolia Medical University,Hohhot 010050,China)

机构地区：[1]内蒙古医科大学附属医院皮肤性病科,内蒙古呼和浩特010050

出　　处：《中国皮肤性病学杂志》2025年第4期437-441,共5页The Chinese Journal of Dermatovenereology

基　　金：国家自然科学基金项目(82260619);内蒙古自治区自然科学基金项目(2022MS08005);内蒙古医科大学银屑病基础及临床研究创新团队项目(YKD2022TD030)。

摘　　要：患者男,26岁,双侧掌跖及侧缘出现角化过度及红斑5年余。患者自行外用保湿剂无效,后红斑面积逐渐扩大,累及手背、指/趾背、腕部及足侧缘,伴鳞屑及皲裂,合并掌跖部位多汗。皮损组织病理示:网篮状角化过度,颗粒层增厚,棘层肥厚,基底完整,真皮浅层血管周围稀疏淋巴细胞浸润。基因测序结果示:AQP5基因3号外显子处发生杂合性错义突变,即c.592C>T(p.Arg198Trp)。诊断:Bothnian型掌跖角化病。治疗:门诊予以0.1他扎罗汀乳膏局部外用治疗1个月后,患者皮损较前显著改善。A 26-year-old male was presented with hyperkeratosis and erythema on both palms,soles,and lateral edges for over 5 years.Self-application of moisturizer was ineffective,and the area of erythema gradually expanded to involve the backs of the hands,fingers,toes,wrists,and lateral edges of the feet,accompanied by the development of scales,cracks,and excessive sweating in the palms and soles.Pathological examination of the skin tissue revealed excessive basket-like keratinization,thickening of the granular layer,thickening of the spinous layer,intact basal layer,and sparse lymphocyte infiltration around the superficial blood vessels in the dermis.Gene sequencing results identified a heterozygous missense mutation at exon 3 of the AQP5 gene,specifically c.592C>T(p.Arg198Trp).The diagnosis was palmoplantar keratosis Bothnian type.After a month of topical application of 0.1 tazarotene cream in the outpatient department,the patient′s skin lesions showed significant improvement compared to baseline.

关 键 词：掌跖角化病 Bothnian型 AQP5 高通量测序 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]