Rare Medical News

Disease Profile

Proliferative verrucous leukoplakia

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

#N/A

ICD-10

#N/A

Inheritance

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

no.svg

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

no.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Summary

Proliferative verrucous leukoplakia (PVL) is a rare type of oral leukoplakia, where white patches that have a high risk of becoming cancerous develop inside the mouth. It mainly involves the lining inside of the cheeks (buccal mucosa) and tongue. It starts as a white plaque of thickened skin (hyperkeratosis) that eventually spreads and forms rough, wart-like (verrucous) lesions that may look like cauliflower. The lesions are slow-growing and progressive, and more and more difficult to control over time. The risk of becoming cancerous is high, especially, of transforming to squamous cell cancer or verrucous carcinoma. It also has a high chance of coming back after treatment (high recurrence risk). The cause is unknown. In some cases, an association with human papilloma virus (HPV) infection has been noted. PVL is more common in elderly women who have had lesions of leukoplakia for many years. People with PVL should avoid certain factors currently known to be related to the development of oral cancer such as tobacco and alcohol. Treatment is not well established but may include surgery, laser ablation treatments, photodynamic therapy, and medication such as Methisoprinol. Because of the long-term course and high chance of becoming cancerous, people with this disease need to have regular follow-up.[1][2][3] 

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

    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.

    In-Depth Information

    • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Proliferative verrucous leukoplakia. Click on the link to view a sample search on this topic.

      Selected Full-Text Journal Articles

        References

        1. Rahat A. Proliferative Verrucous Leukoplakia. Medscape Reference. July, 2016; https://emedicine.medscape.com/article/1081559-treatment#d9.
        2. Borgna SC, et al. Management of proliferative verrucous leukoplakia: Justification for a conservative approach. Head Neck. June 22, 2017; https://www.ncbi.nlm.nih.gov/pubmed/28640498.
        3. Munde A & Karle R. Proliferative verrucous leukoplakia: An update. 2016; 12(2):469-473. https://www.cancerjournal.net/article.asp?issn=0973-1482;year=2016;volume=12;issue=2;spage=469;epage=473;aulast=Munde.