Rare Pediatrics News

Disease Profile

Orofacial Granulomatosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Summary

Orofacial granulomatosis (OFG) is a condition characterized by granulomatous inflammation of regions of the mouth, jaw and face (maxillofacial), in the absence of a recognised systemic condition known to cause granulomas. Features include lip enlargement, swelling inside and around the mouth, oral ulcerations (sores), and inflammation of the gums (gingivitis). There may be only swelling inside the mouth or permanent disfiguring swelling of the lips and face. OFG includes granulomatous cheilitis (when it presents as a persistent or recurrent lip swelling), and Melkersson-Rosenthal syndrome (which includes CG, facial nerve palsy and fissured tongue) that can manifest with only CG. In some cases, orofacial granulomatosis is part of another disease such as Crohn's diseasesarcoidosis, and infectious diseases such as tuberculosis. The diagnosis of OFG is confirmed only by biopsy and microscopic tissue analysis identifying the noncaseating granulomas. When OFG occurs alone, without other associated diseases it is considered idiopathic.[1][2] Up to 40% of the people with orofacial granulomatosis (OFG) may have positive reactions to patch allergy tests.[3]

The exact prevalence of idiopathic OFG is not known, but it is considered a rare condition in most literature reports. Treatment is difficult and has to be individualized, but may include corticosteroids (systemic or injected inside the lesions), and other medication.[4][3] Granulomatous cheilitis or OFG may improve with a cinnamonand benzoate-free diet.[3] Response to treatment is slow, and can take years, but most people improve. Surgery may be required for severe permanent swelling interfering with speaking or eating.[1]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Providing General Support

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • DermNet New Zealand is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • The Primary Care Dermatology Society has information on this disease. Please click on the link.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Orofacial Granulomatosis. Click on the link to view a sample search on this topic.

        References

        1. Dyall-Smith. Orofacial granulomatosis. DermNetNZ. 2016; https://www.dermnetnz.org/topics/orofacial-granulomatosis/.
        2. Rana AP. Orofacial granulomatosis: A case report with review of literature. Journal of Indian Society of Periodontology Available at:. 2012; 16(3):469-474. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3498725/.
        3. Snyder A. Cheilitis Granulomatosa Treatment & Management Updated. Medscape Reference. Jun 21, 2018; https://emedicine.medscape.com/article/1075333-treatment.
        4. Al-Hamad A, Porter S & Fedele S. Orofacial Granulomatosis. Dermatol Clin. July, 2015; 33(3):433-46. https://www.ncbi.nlm.nih.gov/pubmed/26143423.
        5. Troiano G, Dioguardi M, Giannatempo G, et al. Orofacial Granulomatosis: Clinical Signs of Different Pathologies. Medical Principles and Practice. 2015; 24(2):117-122. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588207/.