J Crohns Colitis. 2021 Sep 8;jjab158. doi: 10.1093/ecco-jcc/jjab158. Online ahead of print.

Frank Phillips ¹, Bram Verstockt ², Malgorzata Sladek ³, Nanne de Boer ⁴, Konstantinos Katsanos ⁵, Konstantinos Karmiris ⁶, Ahmad Albshesh ⁷, Carl Erikson ⁸, Daniel Bergemalm ⁸, Tamas Molnar ⁹, Pierre Ellul ¹⁰, ECCO CONFER Investigators

Author information

• ¹NIHR Nottingham Digestive Diseases Biomedical Research Centre, Nottingham University Hospitals, Nottingham, UK.
• ²University Hospitals Leuven, Gastroenterology and Hepatology, Leuven, Belgium, KU Leuven, Chronic Diseases, Metabolism and Ageing, TARGID-IBD unit, Leuven, Belgium.
• ³Department of Pediatrics, Gastroenterology and Nutrition, Jagiellonian University Medical College, Krakow, Poland.
• ⁴Amsterdam UMC, Department of Gastroenterology and Hepatology, Amsterdam UMC, Vrije Universiteit Amsterdam, AGEM Research Institute, Amsterdam, The Netherlands.
• ⁵Division of Gastroenterology, Department of Internal Medicine, Faculty of Medicine, University of Ioannina School of Health Sciences, Ioannina, Greece.
• ⁶Department of Gastroenterology, Venizeleio General Hospital, Heraklion, Greece.
• ⁷Department of Gastroenterology, Sheba Medical Center, Tel Hashomer, Israel, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
• ⁸Department of Gastroenterology, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
• ⁹First Department of Medicine, University of Szeged, Szeged, Hungary.
• ¹⁰Department of Medicine, Division of Gastroenterology, Mater Dei hospital, Msida, Malta.

Abstract

Background: Orofacial granulomatosis (OFG) is a rare syndrome that may be associated with Crohn's disease (CD). We aimed to characterise this relationship and the management options in the biologic era.

Methods: This multicentre case series was supported by the European Crohn's and Colitis Organisation (ECCO), and performed as part of the Collaborative Network of Exceptionally Rare case reports (CONFER) project. Clinical data were recorded in a standardised collection form.

Results: This report includes 28 patients with OFG associated with CD: 14 males (mean age of 32 years, ±12.4 SD) and 14 females (40.3 years, ±21.0 SD). Non-oral upper gastrointestinal tract involvement was seen in 6 cases and perianal disease in 11. The diagnosis of OFG was made prior to CD diagnosis in 2 patients, concurrently in 8 and after CD diagnosis in 18. The distribution of OFG involved the lips in 16 cases and buccal mucosa in 18. Pain was present in 25 cases, with impaired swallowing or speaking in 6. Remission was achieved in 23 patients, notably with the use of anti-TNFs in 9 patients, vedolizumab in 1, ustekinumab in 1 and thalidomide in 2. A further 5 cases were resistant to therapies including anti-TNFs.

Conclusion: OFG associated with CD may occur before, concurrently or after the diagnosis of CD. Perianal and UGI disease are common associations and there is a significant symptom burden in many. Remission can be obtained with a variety of immunosuppressive treatments, including several CD approved biologicals.