PDF(Pubmed)
Abstract：
Papillon-lefevre syndrome (PLS) belongs to a heterogeneous group of skin diseases that are characterized by hyperkeratosis of palms and soles. It is a type IV palmoplantar keratosis (PPK) while the palmoplantar keratodermas share some features of PPK, they are etiologically heterogeneous. PLS differs from other types of PPK by the presence of severe and early onset periodontitis. Genetic studies have shown that mutation in the major gene locus of chromosome 11q14 with the loss of function of cathepsin-C (CTSC) gene is responsible for PLS. CTSC gene mutations are causative for PLS. The resultant loss of CTSC function is responsible for the severe periodontal destruction seen clinically. This report represents two siblings with classical signs and symptoms of PLS.
摘要：
乳头-左叶综合征（PLS）属于一组异质性的皮肤病，其特征是手掌和脚底角化过度。这是一种IV型掌底角化病（PPK），而掌底角化病有PPK的一些共同特征，它们在病因上是异质的。PLS与其他类型的PPK的不同之处在于存在严重和早发性牙周炎。遗传研究表明，染色体11q14的主要基因位点的突变与组织蛋白酶C（CTSC）基因的功能丧失有关。CTSC基因突变是PLS的原因。CTSC功能的最终丧失是临床上看到的严重牙周破坏的原因。该报告代表了两个具有PLS的经典体征和症状的兄弟姐妹。
