Search results for "White sponge nevus"

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Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus

2018

Background Oral white sponge nevus (WSN) is a rare autosomal dominant benign condition, characterized by asymptomatic spongy white plaques. Mutations in Keratin 4 (KRT4) and 13 (KRT13) have been shown to cause WSN. Familial cases are uncommon due to irregular penetrance. Thus, the aim of the study was: a) to demonstrate the clinical and histopathological features of a three-generation Turkish family with oral WSN b) to determine whether KRT4 or KRT13 gene mutation was the molecular basis of WSN. Material and Methods Out of twenty members of the family ten were available for assessment. Venous blood samples from six affected and five unaffected members and 48 healthy controls were obtained f…

AdultMaleTurkish populationAdolescentTurkeyLeukokeratosis Hereditary MucosalGene mutationBiology030207 dermatology & venereal diseases03 medical and health sciencesExonYoung Adult0302 clinical medicineWhite sponge nevusmedicineHumansChildGeneral DentistryGeneAllele frequencyGeneticsOral Medicine and PathologyResearchKeratin-13030206 dentistryMiddle Aged:CIENCIAS MÉDICAS [UNESCO]medicine.diseasePenetrancePedigreeOtorhinolaryngologyKeratin 4Case-Control StudiesUNESCO::CIENCIAS MÉDICASCytogenetic AnalysisMutationbiology.proteinSurgeryKeratin-4Medicina Oral, Patología Oral y Cirugía Bucal
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