Orofacial granulomatosis: Clinical and therapeutic features in an Italian cohort and review of the literature

Abstract

Background Orofacial granulomatosis (OFG) is characterized by granulomatous inflammation of the soft tissues of maxillofacial region. We explored OFG patients from 10 different Italian centers and summarized the most recent literature data. Methods A review of patients with OFG was carried out. An extensive online literature search was performed to identify studies reporting diagnosis and management of OFG. Results Thirty‐nine patients were recruited between January 2018 and February 2020. Most of them (97.4%) displayed involvement of the lips, and 28.2% suffered from Melkersson‐Rosenthal syndrome. Two patients received diagnosis of CD and one patient of sarcoidosis, suggesting secondary OFG. Oral aphthosis and cervical lymphadenopathy were also described. The mean diagnostic delay was 3.4 years. Histological evaluation was performed in 34/39 patients (87.2%); non‐caseating granulomas were found in 73.5% of them. Neurological symptoms (28.2%), gastrointestinal symptoms in absence of overt inflammatory bowel disease (IBD) (20.5%), and atopy (35.9%) were also identified. Therapeutic approaches varied among the centers. Steroids (51.3%) were used with good or partial results. Anti‐TNF‐α and anti‐IgE monoclonal antibodies were used in 6 (15.4%) and 1 (2.6%) patients, respectively, with variable results. Surgery was the choice for 2 patients with good response. Conclusions OFG is a rare and neglected disease showing multiple clinical phenotypes. While early diagnosis is crucial, management is difficult and highly dependent on the expertise of clinicians due to the lack of international guidelines. There is a need to establish registry databases and address challenges of long‐term management.

Disease-related burden and long-term outcome in orofacial granulomatosis: observations from a large single-centre cohort

“…Our study data confirm granulomatous cheilitis affecting the upper lip as the most frequent manifestation of OFG. [1][2][3]7 The full MRS triad was found in only five (8.2%) patients, which is close to the even lower rate of 2.76% reported in a recent systematic review. 3 More than twice as many patients (18.0%) reported one or several episodes of peripheral facial palsy, but not all fulfilled the criteria for MRS due to the absence of cheilitis (n = 1) or plicated tongue (n = 5).…”

“…The therapeutic substances used in our series correspond to the spectrum reported in the medical literature. 1,2,5,6 Systemic steroids reliably induced shortterm remission, 1,5 but the symptoms almost invariably relapsed upon tapering. Evidence supporting the use of specific steroid-sparing agents is scarce.…”

“…4 The associated triad of granulomatous cheilitis, peripheral facial palsy and plicated tongue is referred to as Melkersson-Rosenthal syndrome (MRS). Although numerous treatment options have been described in case reports and small series, [1][2][3]5,6 there is a lack of standardized treatment recommendations and longterm observational data. We performed a study aiming to (i) characterize clinical baseline parameters in a large cohort of patients, (ii) assess disease-related functional and psychological impairment, and (iii) evaluate treatment strategies and long-term outcomes.…”

“…Orofacial granulomatosis (OFG) is a chronic inflammatory condition that is clinically characterized by persistent swelling of the orofacial soft tissues 1–3 . It is aetiologically related to Crohn disease (CD) 1–3 .…”

“…Orofacial granulomatosis (OFG) is a chronic inflammatory condition that is clinically characterized by persistent swelling of the orofacial soft tissues. [1][2][3] It is aetiologically related to Crohn disease (CD). [1][2][3] Histology, typically reveals noncaseating granulomas; however, these may be difficult to locate in small biopsies.…”