Objective: To compare oral manifestations in a Swedish cohort of patients with orofacial granulomatosis with or without Crohn's disease and to assess NOD2 polymorphisms in the two groups.
Methods: Twenty-nine patients with orofacial granulomatosis were included. Demographics, disease history, clinical features and concurrent Crohn's disease were recorded. DNA was extracted from buccal swabs and examined for NOD2 variants Arg702Trp, Gly908Arg and Leu1007fsinsC, all previously linked to gastrointestinal Crohn's disease.
Results: Twelve of 29 patients were diagnosed with coexisting gastrointestinal Crohn's disease, and of whom 21 were males. Symptom duration was significantly longer for the orofacial granulomatosis group com-pared to the group with coexisting Crohn's disease (P < 0.0001). The orofacial granulomatosis patients also perceived their overall discomfort, aesthetic problems and social discomfort as more severe. No significant differences in the clinical presentation of oral lesions between the two groups were found. None of the patients with orofacial granulomatosis carried any of the NOD2 variations, whereas four of the 12 patients with coexisting Crohn's disease had a NOD2 variant (Arg702Trp).
Conclusion: The two patient groups had similar phenotypic characteristics but seemed to have genotypic differences regarding NOD2. The Swedish cohort differed in their clinical characteristics from patients reported in other geographical regions.
Keywords: NOD2; clinical characterisation; inflammatory bowel disease; mucosal diseases; oral mucosa.
© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.