Ragunatha Shivanna, Ramesh Mudalagirigowda, Anupama Panagar, Kapoor Meenakshi, Bhat Meenakshi
Department of Dermatology, Venereology, and Leprosy, Sri Siddhartha Medical College, Tumkur, India.
Pediatr Dermatol. 2015 Mar-Apr;32(2):292-4. doi: 10.1111/pde.12357. Epub 2014 Jun 3.
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder of keratinization caused by homozygous mutations in the gene encoding lysosomal protease cathepsin C (CTSC). It is clinically characterized by transgredient palmoplantar keratoderma (PPK) and periodontitis. A 15-year-old boy presenting with PPK from the age of 6 months and late-onset periodontitis that began at the age of 12 years is described. Mutation analysis revealed a homozygous nonsense mutation (p.Y304X) in exon 7 of the CTSC gene. Late-onset periodontitis in a patient with Papillon-Lefèvre syndrome is a rare phenotypic variation.
掌跖角化牙周病综合征（PLS）是一种罕见的常染色体隐性角化障碍疾病，由编码溶酶体蛋白酶组织蛋白酶C（CTSC）的基因纯合突变引起。其临床特征为进行性掌跖角化病（PPK）和牙周炎。本文描述了一名15岁男孩，他从6个月大时开始出现PPK，12岁时开始出现迟发性牙周炎。突变分析显示CTSC基因第7外显子存在纯合无义突变（p.Y304X）。掌跖角化牙周病综合征患者出现迟发性牙周炎是一种罕见的表型变异。
