title: Genetic mapping in papillon-lefèvre syndrome: a report of two cases.
abstract: 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.
authors.affiliation: Department of Periodontology & Implantology, Sharad Pawar Dental College and Hospital, Wardha, Maharashtra 442001, India.
authors.forename: Kaustubh Suresh
authors.initials: KS
authors.lastname: Thakare
authors.forename: M L
authors.initials: ML
authors.lastname: Bhongade
authors.forename: Pretti
authors.initials: P
authors.lastname: Charde
authors.forename: Shweta
authors.initials: S
authors.lastname: Kale
authors.forename: Priyanka
authors.initials: P
authors.lastname: Jaiswal
authors.forename: B K
authors.initials: BK
authors.lastname: Somnath
authors.forename: Sunil
authors.initials: S
authors.lastname: Pendor