误诊为Hailey-Hailey病的毛囊角化病  

A case of follicle keratosis misdiagnosed as Hailey-Hailey disease

作　　者：杜倩 徐明圆 吴南辉 梁豫琳 白云[2] 刘业强[1] DU Qian;XU Ming-yuan;WU Nan-hui;LIANG Yu-lin;BAI Yun;LIU Ye-qiang(Department of Pathology,Dermatology Hospital affiliated to Tongji University,Shanghai 200443,China)

机构地区：[1]同济大学附属皮肤病医院病理科,上海200443 [2]同济大学附属皮肤病医院中心实验室,上海200443

出　　处：《临床皮肤科杂志》2022年第7期421-423,共3页Journal of Clinical Dermatology

摘　　要：报告1例误诊为Hailey-Hailey病的毛囊角化病。患者女,31岁。乳房下红褐色丘疹19年,肛周红斑、糜烂4年。曾于外院多次诊断为湿疹、Hailey-Hailey病,因病情反复,近期有加重,遂至该院就诊。皮肤科检查:双侧乳房下多发红褐色丘疹,部分融合成斑块,肛周暗红色肥厚性斑块,伴皲裂,局部轻度糜烂。皮损组织病理检查:表皮部分糜烂,疣状增生,基底层上可见裂隙及棘层松解细胞,大量红染的角化不良细胞。基因检测:ATP2A2基因突变。结合患者基因检测结果,最终诊断为毛囊角化病。A case of follicle keratosis was misdiagnosed as Hailey-Hailey disease.The patient,a 31-year-old female,presented with multiple papules presented in the subbreast for 19 years and perianal erythema erosion for 4 years.She was diagnosed as eczema or Hailey-Hailey disease in another hospital.Due to the recurring and aggravating rashes,she visited Dermatology Hospital affiliated to Tongji University.Dermatological examination showed multiple red papules under bilateral breasts,partial fusion into plaques,chapped dark red hypertrophic plaques around the anus with mild local erosion.Histopathological examination revealed partially erosive epidermis,verrucous hyperplasia,acantholysis and acantholytic cell in the basal layer,and a large number of red keratinocytes.Gene detection indicated ATP2A2 mutation.Combined with the genetic results,the diagnosis of follicle keratosis was made.

关 键 词：遗传性皮肤病 毛囊角化病 Hailey-Hailey病 基因检测 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]