Rare Rheumatology News

Disease Profile


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



Leukoplakia is a condition in which thickened, white patches form on the tongue, gums, inside of the cheek, or sometimes on the outer female genitals.[1][2] Although the sores can vary in appearance, they are usually white or gray; thick; and slightly raised with a hard surface.[2] The condition is thought to be caused by irritation, but the cause is not always known.[2] Tobacco is considered to be the main cause of its development in the mouth. Most patches are benign, but a small percentage show early signs of cancer.[1] Removing the source of irritation may cause the condition to go away, but surgery to remove the sore(s) may be necessary in some cases.[2]


Early signs of cancer may not be apparent. The clinical appearance of leukoplakia does not generally correlate with its appearance when examined under a microscope. For example, the lesion may appear unchanged for a period of time but may actually show changes when looked at under a microscope. Therefore, a biopsy is typically recommended in all cases to determine which lesions are precancerous. Small lesions may be biopsied and just followed periodically if it is shown to remain benign. However, those that show precancerous or cancerous features should be removed.[3]


For most people, removing the source of irritation is important and often causes the lesion to disappear.[2] For example, if tobacco use is thought to be the cause, stopping tobacco use usually clears the condition.[1] Dental causes such as rough teeth or fillings should be treated as soon as possible.[2] When this is not effective or if the lesions show early signs of cancer, treatment may include removing the patches.[1] The lesion is usually removed in the health care provider's office using local anesthesia. Leukoplakia on the vulva is treated in the same way as oral lesions.[2] Recurrences are common, so follow-up visits with a physician are recommended.[1]


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

    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

    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

      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 Leukoplakia. Click on the link to view a sample search on this topic.


        1. Leukoplakia. Mayo Clinic. November 2, 2010; https://www.mayoclinic.com/health/leukoplakia/DS00458. Accessed 5/21/2012.
        2. Leukoplakia. MedlinePlus. July 20, 2011; https://www.nlm.nih.gov/medlineplus/ency/article/001046.htm. Accessed 5/21/2012.
        3. Thomas P. Habif. Chapter 21 Premalignant and Malignant Nonmelanoma Skin Tumors. Clinical Dermatology, 5th ed. Mosby, An Imprint of Elsevier ; 2010;

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