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Genetic mapping in papillon-lefèvre syndrome: a report of two cases.

Research paper by Kaustubh Suresh KS Thakare, M L ML Bhongade, Pretti P Charde, Shweta S Kale, Priyanka P Jaiswal, B K BK Somnath, Sunil S Pendor

Indexed on: 05 Dec '13Published on: 05 Dec '13Published in: Case reports in dentistry



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.