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Stefano Fedele - One of the best experts on this subject based on the ideXlab platform.
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STAT3-Deficient hyperimmunoglobulin E syndrome: report of a case with Orofacial Granulomatosis-like disease.
Oral surgery oral medicine oral pathology and oral radiology, 2018Co-Authors: Barbara Carey, Valeria Mercadante, Stefano Fedele, M. Glover, Catherine Cale, Stephen PorterAbstract:Hyperimmunoglobulin E syndrome (HIES) is a rare heterogeneous primary immunodeficiency disorder characterized by infections of the lung and skin, elevated serum immunoglobulin E, and involvement of soft and bony tissues. Autosomal dominant HIES and related disorders are caused by defects in the Janus activated kinase-signal transducer and activator of transcription signaling pathway, leading to reduced numbers of T helper cell type 17 and impaired production of interleukin (IL)-17 A, IL-17 F, and IL-22. In addition, neutrophils have chemotactic defects, resulting in impaired responses at skin and lung sites. We report here a case of Orofacial Granulomatosis-like disease in a teenage boy ultimately found to have autosomal dominant HIES caused by a heterozygous mutation in the STAT3 gene.
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long term effectiveness of intralesional triamcinolone acetonide therapy in Orofacial Granulomatosis an observational cohort study
British Journal of Dermatology, 2014Co-Authors: Stefano Fedele, Ppl Fung, N Bamashmous, A Petrie, Stephen PorterAbstract:Intralesional triamcinolone injections have been suggested to represent a safe and effective therapeutic strategy in controlling permanent disfiguring swelling of Orofacial Granulomatosis (OFG). Robust supporting evidence is however lacking due to variable and inconsistent design of available studies.
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onset and progression of clinical manifestations of Orofacial Granulomatosis
Oral Diseases, 2009Co-Authors: Al K Johani, Tim Hodgson, Stefano FedeleAbstract:There remain few studies describing in detail the early occurrence and long-term progression of clinical manifestations of Orofacial Granulomatosis (OFG) in a substantial number of patients.The aim of this study was to determine the early and late clinical manifestations of a large case series of patients with OFG.Clinically relevant data of 49 patients with OFG who attended an Oral Medicine unit in the UK were examined retrospectively. The analyzed parameters included occurrence and typology of initial manifestations at onset and with respect to long-term follow-up.Five major patterns of disease onset were observed. Recurrent facial swelling with/without intra-oral manifestations was the single most common presentation at onset followed by intra-oral ulcers, and other intra-oral and neurological manifestations. The majority of patients later developed a spectrum of additional features.OFG results in multiple manifestations at different time points. The disease onset is characterized by manifestations other than facial swelling in about half of affected individuals. However, patients can develop cosmetically unacceptable lip/facial swelling at a later stage. Nearly all affected individuals ultimately develop lip/facial swelling while about half of all patients develop oral ulceration.
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the multiform and variable patterns of onset of Orofacial Granulomatosis
Journal of Oral Pathology & Medicine, 2003Co-Authors: Michele D Mignogna, Stefano Fedele, Lucio Lo Russo, Lorenzo Lo MuzioAbstract:Background: The recurrent chronic Orofacial swelling caused by Orofacial Granulomatosis (OFG) can cause significant cosmetic and functional problems but can be prevented if the disease is diagnosed early and promptly treated. Although the enlargement of the lips is described to be the most common presenting complaint, the clinical onset of OFG may be characterized by minor associated mucosal and neurological manifestations, making early diagnosis very difficult or, sometimes, merely presumable. Patients and methods: We retrospectively analyzed the clinical manifestations of 19 patients with OFG, who were examined at our institution between 1998 and 2002, in order to determine their initial manifestations and presenting symptoms. Results: A total of 10 patients showed classical recurrent enlargement of the lips (six lower; four upper) as presenting symptom. In the other nine patients, OFG onset was characterized by transient unilateral facial nerve palsy (two cases), intraoral manifestations (two cases), recurrent swelling of the periorbital area (two cases), of the chin (one case), of the zygomatic area (one case), and of the cheeks (one case). Conclusion: Our data underlined that OFG onset could be frequently characterized by widely variable, multiform, and temporary clinical findings. Involvement of atypical sites of the Orofacial region and presence of single minor manifestations may occur as presenting symptoms, often preceding the development of traditional clinical findings.
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Orofacial Granulomatosis with gingival onset
Journal of Clinical Periodontology, 2001Co-Authors: Michele D Mignogna, Stefano Fedele, Lucio Lo Russo, Lorenzo Lo MuzioAbstract:Abstract Background, aims: Orofacial Granulomatosis (OFG) is a descriptive term used for granulomatous disorders of the face and oral cavity that may occur for a variety of reasons, some of which result in significant morbidity and mortality. Although rarely, a granular enlargements of the gingiva may be the first clinical manifestation of OFG, preceding other local or systemic manifestations. Method: We will report a case of OFG that showed an atypical and monosymptomatic onset with a generalized hyperplastic gingivitis that preceeded other facial and mucosal features by several weeks. Result: Considering the variable clinical onset of OFG and its apparent increase in incidence, we emphasize that in some cases, the periodontologist, as first consulted health care professional, plays an important role to detect this disorder. Early diagnosis of OFG is a crucial step to prevent and cure its unsightly sequelae and sometimes avoid progression of systemic potentially life-threatening OFG-related diseases. Conclusion: Thus, when none of the common causes of gingival enlargement can be detected, OFG diagnosis should be suspected.
Stephen Porter - One of the best experts on this subject based on the ideXlab platform.
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STAT3-Deficient hyperimmunoglobulin E syndrome: report of a case with Orofacial Granulomatosis-like disease.
Oral surgery oral medicine oral pathology and oral radiology, 2018Co-Authors: Barbara Carey, Valeria Mercadante, Stefano Fedele, M. Glover, Catherine Cale, Stephen PorterAbstract:Hyperimmunoglobulin E syndrome (HIES) is a rare heterogeneous primary immunodeficiency disorder characterized by infections of the lung and skin, elevated serum immunoglobulin E, and involvement of soft and bony tissues. Autosomal dominant HIES and related disorders are caused by defects in the Janus activated kinase-signal transducer and activator of transcription signaling pathway, leading to reduced numbers of T helper cell type 17 and impaired production of interleukin (IL)-17 A, IL-17 F, and IL-22. In addition, neutrophils have chemotactic defects, resulting in impaired responses at skin and lung sites. We report here a case of Orofacial Granulomatosis-like disease in a teenage boy ultimately found to have autosomal dominant HIES caused by a heterozygous mutation in the STAT3 gene.
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long term effectiveness of intralesional triamcinolone acetonide therapy in Orofacial Granulomatosis an observational cohort study
British Journal of Dermatology, 2014Co-Authors: Stefano Fedele, Ppl Fung, N Bamashmous, A Petrie, Stephen PorterAbstract:Intralesional triamcinolone injections have been suggested to represent a safe and effective therapeutic strategy in controlling permanent disfiguring swelling of Orofacial Granulomatosis (OFG). Robust supporting evidence is however lacking due to variable and inconsistent design of available studies.
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review article Orofacial Granulomatosis
Alimentary Pharmacology & Therapeutics, 2004Co-Authors: Jair Carneiro Leao, T A Hodgson, Crispian Scully, Stephen PorterAbstract:Orofacial Granulomatosis is an uncommon clinicopathological entity describing patients who have oral lesions characterized by persistent and/or recurrent labial enlargement, oral ulcers and a variety of other Orofacial features, who on lesional biopsy have lymphoedema and non-caseating granulomas. The aetiology of oral lesions with non-caseating granulomas includes oral Crohn's disease (some patients with oral lesions will develop typical bowel symptoms of Crohn's disease in ensuing months to years), tooth-associated infections, sarcoidosis and food or contact allergies. Treatment of Orofacial Granulomatosis is not reliably effective and may not be always necessary, although most patients do require some medical intervention.
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thalidomide for the treatment of recalcitrant oral crohn s disease and Orofacial Granulomatosis
Oral Surgery Oral Medicine Oral Pathology Oral Radiology and Endodontology, 2003Co-Authors: Anne Hegarty, Tim Hodgson, Stephen PorterAbstract:It has been suggested that thalidomide may be effective in the management of Crohn's disease, including the associated oral lesions. We detail the clinical response to low-dose thalidomide of 5 patients with clinical features of Orofacial Granulomatosis or oral Crohn's disease recalcitrant to recognized immunosuppressant therapy. All patients had clinical resolution of their symptoms and signs. Transient somnolence was the only reported adverse effect. Remission was maintained by extending the period between thalidomide doses. Thalidomide should be considered an effective therapy for the short-term treatment of severe Orofacial Granulomatosis in appropriately counseled patients.
Michael Escudier - One of the best experts on this subject based on the ideXlab platform.
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streptococcus salivarius a potential salivary biomarker for Orofacial Granulomatosis and crohn s disease
Inflammatory Bowel Diseases, 2019Co-Authors: Rishi M Goel, Michael Escudier, Jeremy D Sanderson, Erica M Prosdocimi, Ariella Amar, Yasmin Omar, William G Wade, Natalie J PrescottAbstract:Background Orofacial Granulomatosis (OFG) is a rare disease characterised by chronic, noncaseating, granulomatous inflammation primarily affecting the oral cavity. Histologically, it is similar to Crohn's disease (CD), and a proportion of patients have both OFG and CD. The cause of OFG remains elusive, but it has been suggested that microbial interactions may be involved. The aim of this study was to compare the salivary microbial composition of subjects with OFG and/or CD and healthy controls. Methods Two hundred sixty-one subjects were recruited, of whom 78 had OFG only, 40 had both OFG and CD, 97 had CD only with no oral symptoms, and 46 were healthy controls. Bacterial community profiles were obtained by sequencing the V1-V3 region of the 16S rRNA gene. Results There were no differences in richness or diversity of the salivary bacterial communities between patient groups and controls. The relative abundance of the Streptococcus salivarius group was raised in patients with OFG or CD only compared with controls, whereas that of the Streptococcus mitis group was lower in CD compared with both OFG and controls. One S. salivarius oligotype made the major contribution to the increased proportions seen in patients with OFG and CD. Conclusions The salivary microbiome of individuals with OFG and CD was similar to that found in health, although the proportions of S. salivarius, a common oral Streptococcus, were raised. One specific strain-level oligotype was found to be primarily responsible for the increased levels seen.
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the mouth in inflammatory bowel disease and aspects of Orofacial Granulomatosis
Periodontology 2000, 2019Co-Authors: Esther Hullah, Michael EscudierAbstract:Inflammatory bowel disease has a wide range of possible oral manifestations, many of which overlap with those seen in other conditions, including Orofacial Granulomatosis. The precise etiology remains unclear, as is the exact relationship between Orofacial Granulomatosis and Crohn's disease. Overall, there is growing evidence that Orofacial Granulomatosis and oral Crohn's disease are distinct clinical disorders with optimal management requiring a multidisciplinary approach with input from appropriate specialists in oral medicine, gastroenterology, allergy, dietetics, and clinical psychology. This review details the etiopathogenesis, clinical presentation, epidemiology, extra-intestinal, and oral manifestations of inflammatory bowel disease and Orofacial Granulomatosis. It also assesses the current role of investigations in the diagnosis of Orofacial Granulomatosis and critically reviews the available evidence in relation to medical and surgical interventions for the condition, and its relationship to Crohn's disease.
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update on Orofacial Granulomatosis
Primary dental journal, 2016Co-Authors: Esther Hullah, Michael EscudierAbstract:Orofacial Granulomatosis (OFG) is a condition manifesting clinically with chronic swelling of the mouth and/or face, notably with swelling of the lips and oral mucosa, a full-thickness, erythematous gingivitis and mucosal ulceration of various clinical types. Some patients may also present with neurological findings, for example facial palsy. Biopsy of affected tissue shows lymphoedema, with or without granulomatous inflammation. The oral lesions in OFG are histologically indistinguishable from the oral lesions in Crohn's disease (CD) and other systemic granulomatous disorders. It is a condition which may respond to the exclusion of certain food-related chemicals from the diet in up to 60% of patients and, as such, is distinct from gastrointestinal CD. CD is a relapsing systemic inflammatory disease which predominantly affects the gut, and patients suffering from this disease frequently present with abdominal pain, fever and altered bowel habit. A proportion of patients with clinical OFG (without other systemic disease) may have asymptomatic gastrointestinal involvement or go on to develop gut CD suggesting an association between the two diseases. It is estimated that 1% of CD sufferers may have a diagnosis of OFG, but the majority of patients in specialist OFG clinics do not have gut symptoms.
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oc 013 genetic susceptibility to Orofacial Granulomatosis
Gut, 2015Co-Authors: R Goel, Michael Escudier, Jack Satsangi, S Nayee, John C Mansfield, Christopher G Mathew, Natalie J Prescott, Jeremy D SandersonAbstract:Introduction Orofacial Granulomatosis (OFG) is a rare, disfiguring inflammatory disorder of the mouth where a proportion of cases also have intestinal Crohn’s disease (CD). The aetiology remains largely unknown, although there is high prevalence of allergy in OFG with and without CD. Our objective was to investigate whether OFG and CD have shared genetic aetiology or whether OFG is mediated by distinct immune-related genetic susceptibility variants. Method Patients were clinically assessed and determined to either demonstrate isolated oral manifestations (OFG only) or concurrent intestinal CD (CD/OFG). Genomic DNA from 263 patients was genotyped using the Immunochip, a custom Illumina microarray assessing 196,524 genetic variants across multiple immune-related disease loci. Patient data was compared to data for 4,307 population controls from the UKIBD consortium. Statistical analysis was performed using PLINK, a whole genome association analysis program and the R statistical package. Results Analyses revealed two significant associations (p –6 ) within the OFG only cohort with single nucleotide polymorphisms (SNPs) on chromosome 11q13.5 near the LRRC32 gene (p = 1.6 × 10 –9 ) and on chromosome 6 (p = 3.9 × 10 –7 ) within the MHC class I region. The 11q13.5 locus has previously shown association with atopic conditions and the MHC class I region is implicated in numerous allergic and autoimmune diseases, including CD. In addition, a highly suggestive association was detected from the CD/OFG group on chromosome 5p13 (p = 2.5 × 10 –6 ), a known risk locus for CD. Collectively, these results suggest that OFG is influenced by common variants implicated in allergy and immunity, supporting the link between OFG and allergy. However there may also be some overlap with genetic aetiology for CD. Replication in a larger independent cohort is required to substantiate our findings. Conclusion OFG is likely to be a complex disease mediated by diverse genetic variants, sharing genetic susceptibility with allergic disorders and autoimmune conditions such as CD. Disclosure of interest None Declared.
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review article cinnamon and benzoate free diet as a primary treatment for Orofacial Granulomatosis
Alimentary Pharmacology & Therapeutics, 2011Co-Authors: Helen Campbell, Michael Escudier, Preeti Patel, S J Challacombe, Jeremy D Sanderson, Miranda LomerAbstract:Summary Background Orofacial Granulomatosis is a rare chronic granulomatous inflammatory disease of the lips, face and mouth. The aetiology remains unclear but may involve an allergic component. Improvements have been reported with cinnamon- and benzoate-free diets. Aims To explore the prevalence of compound and food sensitivity and examine the dietary treatments used in Orofacial Granulomatosis. Methods A comprehensive literature search was carried out and relevant studies from January 1933 to January 2010 were identified using the electronic database search engines; AGRIS 1991–2008, AMED 1985–2008, British Nursing and Index archive 1985–2008, EMBASE 1980–2008, evidence based medicine review databases (e.g. Cochrane DSR), International Pharmaceutical and Medline 1950–2008. Results Common sensitivities identified, predominantly through patch testing, were to benzoic acid (36%) food additives (33%), perfumes and flavourings (28%), cinnamaldehyde (27%), cinnamon (17%), benzoates (17%) and chocolate (11%). The cinnamon- and benzoate-free diet has been shown to provide benefit in 54–78% of patients with 23% requiring no adjunctive therapies. A negative or positive patch test result to cinnamaldehyde, and benzoates did not predict dietary outcome. The most concentrated source of benzoate exposure is from food preservatives. Use of liquid enteral formulas can offer a further dietary therapy, particularly in children with Orofacial Granulomatosis. Conclusion Management of Orofacial Granulomatosis is challenging but cinnamon- and benzoate-free diets appear to have a definite role to play.
Lorenzo Lo Muzio - One of the best experts on this subject based on the ideXlab platform.
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the multiform and variable patterns of onset of Orofacial Granulomatosis
Journal of Oral Pathology & Medicine, 2003Co-Authors: Michele D Mignogna, Stefano Fedele, Lucio Lo Russo, Lorenzo Lo MuzioAbstract:Background: The recurrent chronic Orofacial swelling caused by Orofacial Granulomatosis (OFG) can cause significant cosmetic and functional problems but can be prevented if the disease is diagnosed early and promptly treated. Although the enlargement of the lips is described to be the most common presenting complaint, the clinical onset of OFG may be characterized by minor associated mucosal and neurological manifestations, making early diagnosis very difficult or, sometimes, merely presumable. Patients and methods: We retrospectively analyzed the clinical manifestations of 19 patients with OFG, who were examined at our institution between 1998 and 2002, in order to determine their initial manifestations and presenting symptoms. Results: A total of 10 patients showed classical recurrent enlargement of the lips (six lower; four upper) as presenting symptom. In the other nine patients, OFG onset was characterized by transient unilateral facial nerve palsy (two cases), intraoral manifestations (two cases), recurrent swelling of the periorbital area (two cases), of the chin (one case), of the zygomatic area (one case), and of the cheeks (one case). Conclusion: Our data underlined that OFG onset could be frequently characterized by widely variable, multiform, and temporary clinical findings. Involvement of atypical sites of the Orofacial region and presence of single minor manifestations may occur as presenting symptoms, often preceding the development of traditional clinical findings.
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Orofacial Granulomatosis with gingival onset
Journal of Clinical Periodontology, 2001Co-Authors: Michele D Mignogna, Stefano Fedele, Lucio Lo Russo, Lorenzo Lo MuzioAbstract:Abstract Background, aims: Orofacial Granulomatosis (OFG) is a descriptive term used for granulomatous disorders of the face and oral cavity that may occur for a variety of reasons, some of which result in significant morbidity and mortality. Although rarely, a granular enlargements of the gingiva may be the first clinical manifestation of OFG, preceding other local or systemic manifestations. Method: We will report a case of OFG that showed an atypical and monosymptomatic onset with a generalized hyperplastic gingivitis that preceeded other facial and mucosal features by several weeks. Result: Considering the variable clinical onset of OFG and its apparent increase in incidence, we emphasize that in some cases, the periodontologist, as first consulted health care professional, plays an important role to detect this disorder. Early diagnosis of OFG is a crucial step to prevent and cure its unsightly sequelae and sometimes avoid progression of systemic potentially life-threatening OFG-related diseases. Conclusion: Thus, when none of the common causes of gingival enlargement can be detected, OFG diagnosis should be suspected.
Donna Grantmills - One of the best experts on this subject based on the ideXlab platform.
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a case of cheilitis granulomatosa Orofacial Granulomatosis
Clinical Cosmetic and Investigational Dentistry, 2020Co-Authors: Ronald S Brown, Andre A Farquharson, Gail Cherrypeppers, Leslie M Lawrence, Donna GrantmillsAbstract:A case of a 19-year-old female patient is presented to a private practice dental clinician with swelling of the lower lip and inflammation of the anterior dorsal tongue. The patient presented with moderate oral pain as well as abdominal pain. The lesions were biopsied and noted for a granulomatous histopathologic appearance. The patient reported a history of using cinnamon as a flavoring agent. The lesions resolved within two weeks after the biopsy procedures and topical steroid therapy. The lesions were diagnosed as cheilitis granulomatosa/Orofacial Granulomatosis. The patient has remained lesion free as of the three-year follow-up. Etiologic, diagnostic and therapeutic issues related to this relatively rare condition of cheilitis granulomatosa/Orofacial Granulomatosis are discussed.