掌跖角化-牙周破坏综合征1例  

Acase of papillon-lefevre syndrome

作　　者：皮宇豪 刘玲 PI Yuhao;LIU Ling(Xi'an Medical University,Xi'an 710021,China)

机构地区：[1]西安医学院,西安710021 [2]空军军医大学西京皮肤医院

出　　处：《实用皮肤病学杂志》2024年第3期182-184,共3页Journal of Practical Dermatology

摘　　要：25岁女性患者,因掌跖角化25年、牙龈及牙周反复炎症20年就诊。皮肤科情况:双侧掌跖轻度角化伴局部脱屑,指端、掌指关节伸侧及足背角化性红斑。口腔科情况:咬合错乱,牙龈增生,牙龈炎及牙周炎。全外显子基因检测到CTSCC.1015CT错义纯合突变。诊断:掌跖角化-牙周破坏综合征。患者因口腔病变接受正畸治疗,因掌跖角化症状较轻,未进一步治疗。A 25-year-old female patient presented with palmoplantar keratoderma for 25 years and recurrent gingivitis and periodontitis for 20 years.The dermatological examination revealed slight bilateral palmoplantar keratoderma with desquamation and keratinizing erythema distributed in the fingertips,extensor aspects of metacarpophalangeal joints,and foot dorsum.The dental examination showed malocclusion,gingivitis,and periodontitis.The whole exome sequencing revealed a homozygous missense mutation in CTSC C.1015C>T.The patient was diagnosed with papillon-lefevre syndrome and underwent orthodontic treatment without any additional treatment for palmoplantarkeratoderma.

关 键 词：Papillon-lefevre综合征 CTSC基因 掌跖角化 牙周炎 

分 类 号：R758.53[医药卫生—皮肤病学与性病学] R781.4[医药卫生—临床医学]