Papillon–Lefevre syndrome (PLS) without cathepsin C mutation: A rare early onset partially penetrant variant of PLS

摘要

Papillon–Lefevre syndrome (PLS) is a very rare, autosomal recessive syndrome characterized by palmar–plantar hyperkeratosis and severe destructive periodontitis. Most patients present with PLS harbor mutations in the cathepsin C gene, but recent studies have identified individuals with classic PLS symptoms without such mutations. This suggests more genetic heterogeneity for PLS than previously thought. Here we present an individual’s manifesting characteristic clinical features of PLS with no mutations in the coding sequence of cathepsin C. We suggest there must be alternative genetic causes for such forms of PLS.