Background: Orofacial granulomatosis (OFG) is a controversial entity mainly characterised by recurrent or permanent soft tissue swelling of sudden onset in the orofacial area with a histologic appearance of granulomatous inflammation. Differential diagnosis includes local diseases and systemic conditions, such as Crohn's disease (CD). A case of OFG in a paediatric patient is reported here, focusing on the clinical features, diagnostic procedures, treatment and long-term outcome.
Case report: A 7 year-old boy presented with persistent and prominent lip swelling and painful oral mucosa lesions of six months duration. A biopsy of the lower labial mucosa revealed granulomatous inflammation consistent with OFG. The oral manifestations were managed with topical and intralesional corticosteroids. His medical history included gastrointestinal disturbances, perianal skin folds and bloody stools that raised the suspicion of CD. Colonoscopy showed inflammation without clear evidence of CD. One year later, repeated bowel investigation provided evidence suggestive of CD and the patient was placed under systemic treatment. Two years after the initial diagnosis the patient is free of oral or other pathological findings.
Conclusion: The differential diagnosis in cases of orofacial swellings with histological granulomatous inflammation includes a variety of local and systemic diseases, diagnosis and management of which require full investigation and cooperation by a team of healthcare providers.