Orofacial granulomatosis as the initial presentation of Crohn's disease in an adolescent

Abstract

Orofacial granulomatosis (OFG) is a rare and heterogeneous clinical condition that presents with chronic swelling of the oral or facial tissues due to granulomatous inflammation. It is histologically characterized by noncaseating giant cell granulomata and epithelioid histiocytes. OFG includes the previously recognized clinical entities of Melkersson-Rosenthal syndrome and cheilitis granulomatosa (Miescher's cheilitis). A consistently effective medical treatment is not currently available. We describe an adolescent patient with a history of recurrent orofacial swelling preceding gastrointestinal symptoms by several years. He exhibited clinical and histological changes consistent with the diagnosis of OFG. It was resistant to standard therapies such as topical corticosteroids. Thorough history taking and clinical examination suggested Crohn's disease (CD), and further tests confirmed the diagnosis. The patient improved promptly after initiating oral treatment for CD with mesalazine and prednisolone. We conclude that OFG may be under- or misdiagnosed since the clinical manifestation may be misleading and its course is independent of or even preceding CD. Thus, patients with OFG should be asked about gastrointestinal symptoms consistent with CD. Those with suspicious symptoms should undergo a careful gastrointestinal evaluation, possibly including enteroclysis and complete gastrointestinal endoscopic examination, especially when the patient's history is conspicuous.