Background: Orofacial Granulomatosis (OFG) in children is a rare chronic inflammatory condition characterized by relapsing and remitting swelling, deep ulcers, and other lesions in the mouth and around the face. It can occur in isolation or in association with systemic disease such as sarcoidosis, tuberculosis, Crohn’s disease. We report a rare presentation of OFG as the initial manifestation of Crohn’s disease in a young child, highlighting the diagnostic value of thorough examination. Case Presentation Summary: An 8-year-old girl presented with a non-healing ulcer in the left lower jaw for 2 months, painful while eating, initially treated as a major aphthous ulcer. Further history revealed variable bowel habits (1–2 times/day, ranging from firm to loose stools), dairy intolerance, and anemia, with a family history of inflammatory bowel disease (maternal great-grandmother with colitis). Examination showed multiple oral ulcers and perianal skin tags. Biopsy of the oral lesion demonstrated orofacial granulomatosis, and investigations revealed markedly elevated fecal calprotectin (>1800 µg/g), microcytic hypochromic anemia, CRP of 16 mg/L, and ESRof 21 mm/hr. Upper GI endoscopy and colonoscopy identified a small esophageal ulcer and erosive esophagitis, with biopsies from the ileum and descending colon showing granulomatous inflammation consistent with Crohn’s disease. She was commenced on steroids and immunosuppressants, achieving remission. Learning Point Discussion: Persistent oral ulcers and orofacial granulomatosis can be the first clinical manifestation of Crohn’s disease in children. Misdiagnosis as aphthous ulcers is common; persistence and atypical features warrant further investigation. Perianal findings (e.g., skin tags) and extra-intestinal features (e.g., anemia, growth issues, food intolerance) provide important diagnostic clues. Family history of IBD increases suspicion and should always be considered during evaluation. Fecal calprotectin is a valuable non-invasive marker while endoscopy and biopsy remain the diagnostic gold standard of Crohn’s disease. Early diagnosis and treatment with steroids and immunosuppressants are crucial for inducing remission and preventing disease progression in pediatric Crohn’s disease.
Sharma et al. (Thu,) studied this question.