Complete homozygous deletion of CTSC in an Iranian family with Papillon-Lefèvre syndrome

摘要

Papillon-Lefevre syndrome (PLS) is a rare, autosomal recessive disorder with an estimated prevalence of one to four cases per million in the general population. It is characterized by palmoplantar hyperkeratosis (PPK) and severe early-onset periodontitis affecting both the primary and permanent dentition, which results in premature tooth loss. The symptoms arise during the first years of life. Severe periodontitis starts at 3-4 years of age and, after affecting the primary dentition, extends to the permanent dentition.