Disease Profile

Ameloblastoma

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

All ages

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ICD-10

D16.4 D16.5

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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Other Names (AKA)

Adenoameloblastoma

Summary

Ameloblastoma is a rare, noncancerous (benign) tumor that typically develops in the jaw near the molars. It originates in the cells that form the enamel that protects your teeth. The condition most often occurs in adults in their 30s and 40s, though it can occur at any age. In many cases, the first sign is painless swelling in the jaw. While it can be very aggressive, these tumors are rarely found outside of the jaw.[1][2] Treatment is complete surgical removal of the affected tissue.[2]

Cause

Ameloblastoma occurs when the cells that form the protective enamel on your teeth (ameloblasts) grow in excess.[1] The reason for this abnormal growth is not well understood. Some speculate that injury to the mouth or jaw, or lack of protein or minerals in the diet may lead to the growth and development of these tumors.[2] In some cases, they appear to be associated with an impacted tooth.[3]

Treatment

The preferred treatment for ameloblastoma is surgical removal of the affected tissue. In an effort to prevent recurrence, a wide margin of healthy tissue should be removed from the area surrounding the tumor. If the tumor does return, surgery can be performed again.[2]

Ameloblastoma rarely becomes malignant. If malignant spread of the tumor occurs, radiation may be recommended. Malignancy is more common in cases that reoccur after surgery.[2]

Singh et al. have developed a Treatment Algorithm for Ameloblastoma, which you may find of interest.

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 Supporting this Disease

    Social Networking Websites

      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

      • Mayo Clinic has an information page on Ameloblastoma.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Ameloblastoma. Click on the link to view a sample search on this topic.

          References

          1. Ameloblastoma. MayoClinic.com. March 19, 2016; https://www.mayoclinic.org/diseases-conditions/ameloblastoma/home/ovc-20186225.
          2. Steinberg B. Ameloblastoma. National Organization for Rare Disorders (NORD). 2009; https://rarediseases.org/rare-diseases/ameloblastoma/.
          3. Larsen P. Benign Epithelial Odontogenic Tumors. In: Cumming eds. Otolaryngology: Head & Neck Surgery, 4th ed. Philadelphia, PA: Mosby, Inc; 2005;