Open AccessPapillon-lefevre syndrome: Case series and review of literature
Author(s) -
Margi V Bhavsar,
Nilam A Brahmbhatt,
Vishal N Sahayata,
Neeta Bhavsar
Publication year - 2013
Publication title -
journal of indian society of periodontology (print)/journal of indian society of periodontology (online)
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.309
H-Index - 28
eISSN - 0975-1580
pISSN - 0972-124X
DOI - 10.4103/0972-124x.124530
Subject(s) - aggressive periodontitis , loss function , locus (genetics) , hyperkeratosis , keratosis , gene , medicine , periodontitis , dermatology , cathepsin c , genetics , pathology , biology , proteases , phenotype , enzyme , biochemistry
Papillon-lefevre syndrome (PLS) belongs to a heterogeneous group of skin diseases that are characterized by hyperkeratosis of palms and soles. It is a type IV palmoplantar keratosis (PPK) while the palmoplantar keratodermas share some features of PPK, they are etiologically heterogeneous. PLS differs from other types of PPK by the presence of severe and early onset periodontitis. Genetic studies have shown that mutation in the major gene locus of chromosome 11q14 with the loss of function of cathepsin-C (CTSC) gene is responsible for PLS. CTSC gene mutations are causative for PLS. The resultant loss of CTSC function is responsible for the severe periodontal destruction seen clinically. This report represents two siblings with classical signs and symptoms of PLS.