Late onset pepillon-syndrome (a cilinical report)

Yıl 2009, Cilt: 15 Sayı: 2, 44 - 48, 01.03.2009

Kamile Erciyas Sacide Pehlivan Serhat İnalöz Ali Fuat Erciyas Tuğçe Sever

Öz

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 classical PLS patients the number of studies on the late-onset PLS was limited. This paper reports the treatment planning of the mildly affected perıodontal component of a patient with late-onset Papillon-Lefevre syndrome and in DNA by investigating cytokine and MIF genotyping. Cytokine (IL-6, IL-10, IFN-g, TGF-Bl, 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-Bl was detected as intermediate expression and GC genotype in the MIF (-173) gene.

Anahtar Kelimeler

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Late onset papillon-lefevre sendromu olgusu

Öz

Papıllon- Lefevre Sendromu (PLS), otozomal resesıf olarak aktarılan el ve ayak tabanında hıperkeratotık kalınlaşmalara ve perıodontal hastalığa bağlı daimi ve sut dişi kayıplarının görüldüğü kalıtsal bir hastalıktır. Klasik PLS hastaları ile ilgili çok sayıda araştırma olmasına ragmen PLS nın gecikmiş tipiyle ilgili sınırlı sayıda araştırma mevcuttur. Bu vaka raporunda, gecikmiş tip PLS'ye bağlı olarak orta derecede etkilenmiş periodontal dokuların değerlendirilmesi, sitokın ve MIF genotipının araştırılması amaçlanmıştır. Sitokın (IL-6, İL-10, IFN-g TGF-61, TNF-a) genotıpleme için diziye spesifik PCR yöntemi ile yapıldı. TNFa (-238,-857) ve MIF genine ait -173 polımorfızmine PCR-RFLP yöntemi ile bakıldı. Bu sonuçlar, literatürde Late Onset Papillon-Lefevre Sendromu ile ilgili ilk ayrıntılı çalışma verileridir. IL-6, IL-10, IFN-g TNF-a'nın yüksek ekspresyonu, TGF-Bl orta ekspresyonu olduğu ve MIFgenınde ise GC genotipının bulunduğu belirlendi.

Anahtar Kelimeler

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Kaynakça

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