Rare Hematology News

Disease Profile

Oral leukoplakia

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.


US Estimated

Europe Estimated

Age of onset





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


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.


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.


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


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.


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.


Not applicable



Oral leukoplakia describes a white plaque that does not rub off and cannot be characterized as any other condition.[1][2] Though it may occur in any part of the mouth, it generally affects the tongue, gums, and inner cheek.[2] Physicians will usually biopsy oral leukoplakia lesions as 20-40% of cases are precancerous or cancerous at the time of biopsy and another 8-15% become cancerous over time.[2] The exact cause of oral leukoplakia is not known. Factors that may increase the risk of developing oral leukoplakia include smoking, alcohol use, vitamin deficiencies, malocclusion, and a weakened immune system.[1][2]Treatment depends on the biopsy results and the size, appearance, and location of the oral leukoplakia. Removal or ablation of the lesion by surgery, laser, or cryotherapy (use of low temperature) may be recommended.[1][2]


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

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    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.

    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.


      1. Harris, Christopher. Oral Leukoplakia. Medscape. March 31, 2015; https://emedicine.medscape.com/article/853864-clinical#a0218.
      2. Oral Leukoplakia. Brigham and Women’s Hospital Division of Oral Medicine and Dentistry. 2016; https://www.brighamandwomens.org/Departments_and_Services/surgery/services/oral-medicine/pdfs/ODPI1.15_BWH-Oral-Leukoplakia.pdf.