EUROPEAN JOURNAL OF THERAPEUTICS, vol.15, no.2, pp.44-48, 2009 (ESCI)
Papillon-Lefevre syndrome is a rare autosomal recessive disorder characterized by the association of palmoplantar hyperkeratosis and premature loss of both deciduous and permanent teeth. Although there were a number of studies with respect to dassical PLS patients, the number of studies on the late-onset PLS was limited. This paper reports the treatment planning of the mildly affected periodontal component of a patient with late-onset Papilion-Lefevre syndrome and in DNA by investigating cytokine and MIF genotyping. Cytokine (IL-6, IL-10, IFN-g, TGF-beta 1, TNFa) genotyping was performed by the PCR-SSP method. The TNFa (-238,-857) and MIF (-173) genotyping were determined by PCR-RFLP method. These results are the first detailed genetic study data concerning the Late-Onset Papillon-Lefevre Syndrome in literature. The IL-6, IL-10, TNFa and IFN-g polymorphisms were detected as high expression while TGF-beta 1 was detected as intermediate expression and GC genotype in the MIF (-173) gene.