Department of Pediatric Gastroenterology, Faculty of Medicine, Gazi University, Besevler, 06500, Ankara, Turkey.
Eur J Pediatr. 2011 Jun;170(6):689-91. doi: 10.1007/s00431-010-1367-4. Epub 2010 Dec 17.
Papillon-Lefevre Syndrome (PLS) is a very rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and severe early onset periodontitis, affecting the primary and permanent dentition. The syndrome was first described by Papillon and Lefevre in 1924. Genetic, immunologic, and microbiologic factors are suggested as responsible for the initiation and progression of the disease. A point mutation of cathepsin C gene has recently been detected in PLS. A multidisciplinary approach is important for management .The prognosis has improved with the early recognition of the syndrome, effective professional supervision, and home care.
掌跖角化过度-牙周病综合征（PLS）是一种非常罕见的常染色体隐性遗传病，其特征为手掌和足底过度角化和严重的早发性牙周炎，影响乳牙和恒牙。该综合征于 1924 年由 Papillon 和 Lefevre 首次描述。遗传、免疫和微生物因素被认为是该疾病发生和进展的原因。最近在 PLS 中检测到组织蛋白酶 C 基因突变。多学科方法对于疾病的管理非常重要。通过早期识别综合征、有效的专业监督和家庭护理，预后得到了改善。
