Papillon lefevre – A rare syndrome
Journal Title: International Archives of Integrated Medicine - Year 2017, Vol 4, Issue 4
Abstract
Papillon lefevre syndrome (PLS) belongs to a heterogeneous group of skin diseases that are characterized by hyperkeratosis of palms and soles and 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. Loss of CTSC function is responsible for the severe periodontal destruction seen clinically. This report represents classical signs and symptoms of PLS in a 6 year old girl.
Authors and Affiliations
Abhima Kumar, Suhail M. Jan, Rafiya Nazir, Roobal Behal
Keywords
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