Genetic Mapping in Papillon-Lefèvre Syndrome : A Report of Two Cases

Abstract EN

Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive heterogeneous trait which is characterized by erythematous palmoplantar hyperkeratosis, early-onset periodontitis, and associated calcification of dura mater.

The etiology of PLS is multifactorial with genetic, immunological, and microbial factors playing a role in etiopathogenesis.

Recently identified genetic defect in PLS has been mapped to chromosome 11q14–q21, which involves mutations of cathepsin C.

This paper presents a report of 2 cases of Papillon-lefevre syndrome in which diagnosis is based on clinical presentation and genetic mapping.