Orofacial Granulomatosis: Clinical Signs of Different Pathologies

Abstract

Orofacial granulomatosis (OFG) is an uncommon disease characterized by persistent or recurrent soft tissue enlargement, oral ulceration and a variety of other orofacial features. It could be an oral manifestation of a systemic disease. For a correct differential diagnosis, local and systemic conditions characterized by granulomatous inflammation should be excluded using appropriate clinical and laboratory investigations. In fact, the diagnosis of OFG may be confirmed only by histopathological identification of noncaseating granulomas. The literature from 1943 to 2014 was reviewed with emphasis on the etiology of OFG and on clinical manifestations of systemic pathologies associated with OFG. The precise cause of OFG is still unknown, although several theories have been suggested, such as infection, hereditary factors and allergy. OFG is a disease that has a wide spectrum of presentation, which may include the oral manifestation of a systemic condition such as Crohn's disease, sarcoidosis, granulomatosis with polyangiitis and Melkersson-Rosenthal syndrome.

Introductory Chapter: Orofacial Sarcoidosis and Noncaseating Granulomatosis

“…Because of involvement of OFG in CD and sarcoidosis, the possible role of infections in the pathogenesis of OFG has been suggested [17]. Several studies have suggested that there is no conclusive evidence to support the role for allergy in OFG [18]. Recently, a monoclonal lymphocytic expansion in OFG lesion has been identified that may be responsible for the granuloma formation through cytokine production in lesions [19,20].…”

Melkersson-Rosenthal Syndrome Still a Mystery: A Case Report and Suggested Guideline Investigations

“…Troiano et al explored the role of infections and genetics in the MRS etiology [21]. The two main pathogens investigated were Mycobacterium tuberculosis and Borrelia burgdorferi.…”

“…The two main pathogens investigated were Mycobacterium tuberculosis and Borrelia burgdorferi. The skin biopsies were positive for M. tuberculosis but controversial for B. burgdorferi [21]. Trials of treating MRS with anti-tuberculosis regimens have not appeared in literature.…”

“…Xu et al found that the fatty acid transport protein 1 (FATP1) gene had mutated in two affected members and a single unaffected member [22]. Prior to these findings, familial MRS with the incomplete symptom triad was proposed to be inherited in an autosomal dominant pattern of inheritance with translocation at chromosome 9p11 [21].…”

Unclear swelling of the lips and left cheek

“…Chronic bowel disease, concurring or developing over the course of the disease, is reported in up to 50% of cases [1]. Nonspecific signs of extraintestinal Crohn's disease such as mucogingivitis, cobblestone-like mucosa, and lip swelling with vertical fissures or deep linear ulcers precede the intestinal symptoms in about one-third of affected patients [4,5].…”