NLRP3 GENE MUTATION IN A PATIENT WITH RECURRENT APHTHOUS LESIONS

Abstract

Objectives: Chronic recurrent oral aphthous ulcers are frequent inflammatory reactions of the oral mucosa. In this report, a patient with NLRP3 mutation is reported. Case report: An 18-year-old male patient presented to the outpatient clinic with the complaint of recurrent aphthous ulcers. The patient had a history of recurrent, painful aphthous lesions varying in size in the base of the mouth, on the tongue, and in the inner lip. The aphthous ulcers healed with time and had been recurring every 3-4 months in different parts of the mouth since childhood. There was no fever, no abdominal pain, and no genital ulcers. Medical genetic analysis was performed and a heterozygous mutation in the NLRP3 gene, heterozygous mutation in the MEFV gene, and heterozygous mutation in the MVK gene were determined. The patient was also a carrier of familial Mediterranean fever. Colchicine treatment was administered. The patient's oral aphthous lesion attacks and their frequency were followed for about 1 year and the complaints decreased. Conclusion: Physicians should maintain a broad perspective while treating patients with recurrent aphthous complaints. Medical genetic analyses of such patients should also be performed if necessary. In this way, unnecessary treatments will be prevented and drug use will be limited. The prognosis of the disease will be improved and the risk of complications will be reduced.