Periodontology, Indira Gandhi Institute of Dental Sciences, Sri Balaji Vidyapeeth University, Puducherry, India
Orthodontics and Dentofacial Orthopedics, Indira Gandhi Institute of Dental Sciences, Sri Balaji Vidyapeeth University, Puducherry, India.
BMJ Case Rep. 2022 Dec 26;15(12):e252992. doi: 10.1136/bcr-2022-252992.
Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive syndrome, and consanguinity has been reported in 20%-40% of cases. It is characterised by palmoplantar hyperkeratosis associated with severe early-onset periodontitis and premature loss of primary and permanent teeth. This report describes a case of PLS in a female patient with consanguineously married parents. The patient reported mobile upper front teeth. Clinical examination revealed presence of marked palmoplantar hyperkeratosis.Symmetric, well-demarcated, yellowish, keratotic and confluent plaques were seen on the skin of her palms and soles. Intraoral periodontal examination revealed erythematous gingiva with generalised periodontal pockets. Generalised mobility of teeth was present with clinically missing lower anterior teeth. Based on clinical and radiographic feature and the patient's medical, dental and family history, a diagnosis of PLS was made.
先天厚甲-牙周病综合征(PLS)是一种罕见的常染色体隐性遗传综合征,有报道称 20%-40%的病例存在近亲结婚。其特征为手掌和足底过度角化,伴有严重的早发性牙周炎和乳牙及恒牙过早丧失。本报告描述了一例由近亲结婚的父母所生的女性 PLS 患者。该患者自述上前牙松动。临床检查发现有明显的手掌和足底过度角化。她的手掌和足底皮肤可见对称的、界限清楚的、黄色的角化和融合斑块。口腔牙周检查发现牙龈红肿,有广泛性牙周袋。牙齿普遍松动,临床检查发现下前牙缺失。根据临床和影像学特征以及患者的医学、牙科和家族史,诊断为 PLS。