Papillon Lefèvre Syndrome: A Case Report and Review of Etiopathogenesis
Papillon Lefèvre Syndrome: A Case Report And Review Of Etiopathogenesis
DOI:
https://doi.org/10.70284/njirm.v7i6.1405Keywords:
Cathepsin C, Papillon Lefèvre syndrome, PeriodontitisAbstract
Papillon Lefèvre syndrome (PLS) is a very rare autosomal recessive disorder characterised by palmar-plantar hyperkeratosis and early onset periodontitis, leading to premature loss of both primary and permanent dentitions. Patients also have increased susceptibility to infections as manifested by association with liver abscess. Genetic studies have shown that the mutations of cathepsin C gene are responsible for this syndrome. Cathepsin C is an enzyme which processes and activates several granule serine proteinases critical to immune and inflammatory responses of myeloid and lymphoid cells. The other factors playing a role in pathogenesis of PLS include parental consanguinity and alteration of host defence. A case of PLS is presented with patient having characteristic lesions on the skin of palms and soles and edentulous upper and lower dental arches. Also, the etiopathogenesis of this less understood syndrome is reviewed. [Dipti T NJIRM 2016; 7(6): 114-116]
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