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

[papillon-lefÃ¨vre syndrome]

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 .