掌跖角化-牙周破坏综合征1例
A case of papillon-lefèvre syndrome
皮宇豪 1刘玲2
作者信息
- 1. 710021 西安,西安医学院
- 2. 空军军医大学西京皮肤医院
- 折叠
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CTSC C.1015C＞T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.
Abstract
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-lefèvre syndrome and underwent orthodontic treatment without any additional treatment for palmoplantar keratoderma.
关键词
Papillon-lefèvre综合征/CTSC基因/掌跖角化/牙周炎Key words
Papillon-lefèvre syndrome/CTSC gene/Palmoplantar keratoderma/Periodontitis引用本文复制引用
出版年
2024
NETL
NSTL
万方数据