A Report on Genetic Mapping in Papillon-Lefèvre Syndrome

The present case series report two cases of Papillon-Lefevre syndrome (PLS) in pediatric patients
which are treated with multidisciplinary approach. 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 Papillonlefevre
syndrome in which diagnosis is based on clinical presentation and genetic mapping.PLS in an
extremely rare condition is associated with lifelong psychological and social impacts on the growing
children such as depression including hopelessness, aimlessness, social phobia, and a fear of
communicating with people outside their family.