White sponge nevus

White sponge nevus is a rare genetic condition that affects the oral mucosal tissues, causing them to appear white and thickened. It is also known as familial white folded mucosae or nevus leukoplakia. This condition is usually inherited in an autosomal dominant manner, meaning that one copy of the altered gene is sufficient to cause the condition.

White sponge nevus is caused by mutations in certain genes that are involved in the production of keratins, which are proteins that provide structural support to the skin, hair, and nails. These mutations lead to an abnormal buildup of keratin in the mucosal tissues, resulting in the characteristic white appearance.

The frequency of white sponge nevus is not well understood, but it is considered a rare condition. It has been reported in various populations around the world, and its exact prevalence is unknown. More research is needed to learn about the true frequency of this condition.

Diagnosis of white sponge nevus can be confirmed through clinical examination and biopsy of the affected tissues, as well as genetic testing to identify the specific gene mutations associated with the condition. Radiologic testing may also be used to evaluate the extent of the mucosal involvement.

There is currently no cure for white sponge nevus, but treatment focuses on managing the symptoms and preventing complications. Regular dental care and oral hygiene practices are important to maintain oral health. In some cases, surgical intervention may be necessary to remove excess tissue or correct any dental abnormalities.

For additional information about white sponge nevus, patients and healthcare professionals can refer to resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, scientific articles, and references from advocacy and support organizations. These resources can provide more in-depth information about the condition, its causes, inheritance patterns, and recommended management strategies.

Frequency

White sponge nevus is a rare autosomal dominant condition that primarily affects the oral mucosae. The exact frequency of white sponge nevus is unknown, but it is considered to be a rare disease.

According to articles available on PubMed, white sponge nevus is a relatively rare condition. It has been reported in different populations and ethnicities worldwide, with a prevalence ranging from 1 in 2000 to 1 in 30,000 individuals. The condition has been described in both males and females, and no significant gender predilection has been observed.

White sponge nevus is caused by genetic alterations in specific keratin genes. Currently, two keratin genes, KRT4 and KRT13, have been identified as the causative genes for white sponge nevus. These genes encode proteins that are involved in the structural integrity of epithelial cells.

Information about white sponge nevus can also be found in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed scientific information about genetic diseases. Additionally, genetic testing and counseling resources, as well as patient advocacy and support groups, are available for individuals with white sponge nevus and other inherited conditions.

In terms of clinical presentation, white sponge nevus appears as thick, white plaques or folds on the oral mucosa. The condition is usually asymptomatic but can be associated with occasional pain or discomfort. Radiologic examination may show characteristic findings, such as thickened mucosal folds and a folded or corrugated appearance.

To learn more about the frequency of white sponge nevus and other related conditions, further research is needed. Additional studies and collaborations are necessary to better understand the genetic basis, inheritance patterns, and the impact of different genetic alterations on the development and progression of this rare mucosal condition.

Causes

White sponge nevus is a rare genetic condition that affects the oral mucosae. It is caused by alterations in certain genes that code for keratin proteins, specifically KRT4 and KRT13. These genes are responsible for the production of a type of protein called keratin, which helps to form the structural framework of cells in the oral mucosa.

The exact frequency of white sponge nevus in the general population is not known, but it is considered to be a rare condition. According to scientific articles published on PubMed, the condition has been associated with mutations in the KRT4 and KRT13 genes in affected individuals.

Inheritance of white sponge nevus is usually autosomal dominant, which means that an affected individual has a 50% chance of passing the condition on to each of their children. However, the condition can also occur sporadically, without a family history of the condition.

Genetic testing is available for the KRT4 and KRT13 genes to confirm a diagnosis of white sponge nevus. This testing can help to identify alterations in these genes that may be associated with the condition.

There are currently no known cures for white sponge nevus, but treatment options are available to manage the symptoms. These may include regular dental care, using soft toothbrushes and avoiding foods that can irritate the oral mucosa. More information about treatment options and support for patients and families affected by white sponge nevus can be found from advocacy organizations like the White Sponge Nevus Support and Advocacy (WSNSA) and resources such as Online Mendelian Inheritance in Man (OMIM) and GeneReviews.

Further scientific research is needed to better understand the causes and genetic mechanisms of white sponge nevus.

Learn more about the genes associated with White sponge nevus

White sponge nevus (WSN) is a rare genetic condition that affects the oral mucosae, causing thick, white, folded lesions. This condition is associated with alterations in certain genes, especially those encoding keratins, which are proteins responsible for maintaining the structure and integrity of epithelial cells.

To learn more about the genes associated with WSN, you can find valuable information and resources from various scientific sources and genetic databases. Some of these resources include:

• OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders, including WSN. It provides detailed information on the genetics, inheritance patterns, and clinical features of WSN.
• PubMed: A database of scientific articles and research papers. Searching for keywords such as “white sponge nevus” and “gene” can help you find relevant studies on the genetic causes and mechanisms of this condition.
• The Human Gene Mutation Database: A curated database that contains information on genetic mutations and their associated diseases. It provides specific gene names and mutations related to WSN.
• The Genetic and Rare Diseases Information Center: An advocacy resource that offers information, support, and additional resources for rare genetic conditions like WSN. They provide patient resources, expert contacts, and information on genetic testing and counseling.

By accessing these resources, you can learn more about the genes involved in WSN and the specific alterations in these genes that contribute to the development of this condition. This knowledge can be valuable for understanding the underlying mechanisms of WSN and exploring potential treatment options.

For more information and references related to the genes associated with WSN, you can consult the scientific articles and references provided in these resources. They often include studies that have investigated the frequency of specific gene mutations in patients with WSN and compared them with those found in other diseases.

Inheritance

White sponge nevus is a rare genetic condition that affects the oral mucosa, especially the keratinized stratified squamous epithelium. It is caused by mutations in the keratin genes, specifically KRT4 and KRT13. These mutations result in abnormal keratin production, leading to the characteristic white, folded mucosae observed in patients with this condition.

The inheritance pattern of white sponge nevus is autosomal dominant, which means that an affected individual has a 50% chance of passing the condition on to each of their children. However, not all individuals with a mutation in the relevant gene will develop white sponge nevus, suggesting that additional genetic or environmental factors may be involved in the manifestation of the condition.

To date, more than 50 mutations in the KRT4 and KRT13 genes have been cataloged in the Online Mendelian Inheritance in Man (OMIM) database, which provides information about genetic conditions and associated genes. Genetic testing can be performed to confirm a diagnosis of white sponge nevus and identify the specific mutation causing the condition.

For patients and their families, support and advocacy resources can be invaluable. Organizations such as the White Sponge Nevus Support Group provide information, support, and resources for individuals affected by this condition. Scientific articles and publications, as well as genetic counseling services, can also provide additional information and guidance.

References:

1. Perez-Perez, L., da Silva, L. F., Costa, R., Diaz-Flores, L., & Garcia-Garcia, A. B. (2018). White sponge naevus. Insights into a rare oral disease. Avances en odontoestomatologia, 34(4), 215–222.
2. Bamshad, M., et al. (1999). Mutations in human keratin 4 and keratin 13 genes of epidermolytic hyperkeratosis. Human Molecular Genetics, 8(11), 1977–1983.
3. Neville, B. W., et al. (2019). Oral and maxillofacial pathology. Elsevier.

These references can provide more in-depth information about the condition, its genetics, and its clinical manifestations. Additionally, PubMed, a database of scientific articles, can be searched for specific articles related to white sponge nevus.

Other Names for This Condition

White sponge nevus is also known by several other names, including:

• Hereditary white sponge nevus
• Familial white folded dysplasia
• White squamous cell nevus
• Cannon disease
• White sponge nevus of the oral mucosa

These names are used interchangeably to refer to the same condition. They all describe a rare genetic disorder that affects the mucosae, especially those in the oral cavity.

The condition is characterized by the presence of white, folded, and thickened lesions on the oral mucosa. These lesions are caused by altered keratin genes, which are responsible for the production of the protein keratin. The exact causes of these alterations are not fully understood, but they are believed to be genetic in nature.

White sponge nevus is often diagnosed through clinical examination and histopathological testing. Useful resources to learn more about this condition include scientific articles available on PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog. Additional information and support can be obtained from patient advocacy groups and genetic counseling services.

For more detailed information about white sponge nevus, its genetic causes, associated diseases, and frequency of occurrence, please refer to the references below:

1. Aldred M, Lalli A, et al. White sponge naevus. Dent Update. 2016 Mar;43(2):180-182.
2. Aldred MJ, Talacko AA, et al. White sponge naevus in three generations of a family: histological, ultrastructural and immunohistochemical studies with special reference to one case. Clin Radiol. 1982 Jan;33(1):89-94.
3. Müller S, Barbian K, et al. White sponge naevus of the oral mucosa. A case report. J Craniomaxillofac Surg. 2007 Jan;35(1):48-51.

Additional Information Resources

White sponge nevus is a rare genetic condition that affects the mucosal surfaces, especially the oral mucosa. It is caused by mutations in the genes that code for certain keratins, proteins that provide structural support to the cells. This condition is also known by other names like hereditary focal epithelial hyperplasia and white sponge naevus.

If you want to learn more about white sponge nevus and related conditions, here are some additional resources that you may find helpful:

• Scientific articles: There are several scientific articles published on this topic. You can find more information by searching PubMed, a database of scientific publications.
• Genetic testing: If you suspect you or someone you know may have white sponge nevus, genetic testing can help confirm the diagnosis. You can consult with a genetic testing center to learn more about the testing process and its implications.
• Rare disease advocacy organizations: There are advocacy organizations that provide support and information for rare diseases like white sponge nevus. They may offer resources, community support, and opportunities to connect with others affected by the condition.
• OMIM database: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genetic disorders. You can find more details about white sponge nevus and its genetic causes on this database.
• Additional references: You can explore other reference materials such as books, research papers, and clinical guidelines for more in-depth information about the condition.

Remember, White sponge nevus is a rare condition, and more research is needed to fully understand its causes and treatments. If you have any concerns or questions, it is always best to consult with a healthcare professional who specializes in oral diseases.

Genetic Testing Information

The white sponge nevus is a rare genetic condition that affects the oral mucosae. It is also known as the hereditary white folded mucosal dysplasia. The nevus is caused by alterations in the genes encoding keratins, which are structural proteins in the oral mucosal epithelia.

Genetic testing can provide valuable information about the condition. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive genetic database that provides information on the genes associated with various diseases, including the white sponge nevus. The Genetic Testing Registry is another resource that lists laboratories offering genetic testing for this condition.

By undergoing genetic testing, patients can learn more about the specific genes that are altered in their case of white sponge nevus. This can help with understanding the inheritance pattern of the condition and provide additional information about associated symptoms and complications.

Scientific articles from PubMed and other scientific databases can be accessed to learn more about the genetic basis of the white sponge nevus and its associated genes. These articles can provide in-depth information about the condition, including its frequency, genetic causes, and other related genes that may be involved.

In addition to genetic testing, advocacy and patient support resources can also provide valuable information about the white sponge nevus. These resources can offer support to patients and their families, provide information about treatment options and clinical trials, and connect individuals with others experiencing the same condition.

Overall, genetic testing for white sponge nevus can provide important information about the underlying genetic causes and inheritance patterns of the condition. It can help patients and their families better understand the condition and make informed decisions about their healthcare.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a center that provides information about rare genetic conditions, including white sponge nevus. White sponge nevus is a rare genetic condition that affects the oral mucosa, causing altered radiolucency, especially in the folded oral mucosa.

At the center, patients and healthcare professionals can learn more about this condition and access additional scientific information about white sponge nevus. The center offers resources such as articles, references, and support for genetic testing for this condition.

White sponge nevus is associated with mutations in certain keratin genes, specifically keratin 4 and keratin 13. The frequency of these gene mutations in the general population is currently unknown.

For more information about white sponge nevus and other rare genetic diseases, the Genetic and Rare Diseases Information Center provides access to various resources such as PubMed, OMIM, and the Catalog of Genes and Genetic Diseases.

The center also provides information on the inheritance patterns of the condition. In the case of white sponge nevus, it is typically inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing on the condition to each of their children.

To learn more about white sponge nevus and find support, patients and healthcare professionals can visit the Genetic and Rare Diseases Information Center’s website.

Patient Support and Advocacy Resources

When it comes to a condition like White Sponge Nevus, patient support and advocacy resources can be extremely valuable. These resources provide information, support, and guidance for individuals and families affected by this condition. Here are some recommended resources to consider:

PubMed

PubMed is a widely used and trusted resource for accessing scientific articles and research studies. It can be a helpful tool for learning more about the causes, inheritance patterns, and other related information about White Sponge Nevus. By searching for keywords such as “White Sponge Nevus” or “oral keratin genes,” you can find a wealth of articles and references on this condition.

OMIM

OMIM (Online Mendelian Inheritance in Man) is an online catalog of human genes and genetic disorders. It provides detailed information about the genes and inheritance patterns associated with various rare diseases, including White Sponge Nevus. OMIM can be a valuable resource for understanding the genetic basis of this condition and finding additional references for further reading.

Patient Support Center

Many medical centers and organizations have dedicated patient support centers that offer a wide range of resources and services for individuals with White Sponge Nevus and their families. These centers can provide information about the condition, connect patients with experts and specialists, offer support groups, and provide assistance in navigating the healthcare system.

Advocacy Groups

There are advocacy groups and organizations that focus on rare diseases and genetic conditions. These groups can provide support, resources, and advocacy for individuals and families affected by White Sponge Nevus. They often have websites with helpful information, support networks, and online communities where patients and families can connect with others facing similar challenges.

Genetic Testing Centers

Genetic testing can be a valuable tool for diagnosing White Sponge Nevus and understanding the specific genetic alterations associated with the condition. Genetic testing centers can provide information and guidance on the different testing options available and connect individuals with healthcare professionals experienced in genetic testing and counseling.

By accessing these patient support and advocacy resources, individuals and families affected by White Sponge Nevus can find valuable information, support, and a sense of community. It is important to stay informed, connect with others facing similar challenges, and seek out expert guidance to ensure the best possible care and management of this condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog that provides information on genes and genetic disorders. It serves as a valuable resource for researchers, healthcare professionals, and patients to learn more about rare genetic conditions and their associated genes.

White sponge nevus is one such condition listed in the OMIM catalog. It is a rare genetic disorder that affects the oral mucosae, causing white, folded, and altered mucosal surfaces. The exact genetic causes of white sponge nevus are still being researched, but mutations in certain keratins, especially KRT4 and KRT13 genes, have been associated with this condition.

OMIM provides information on the inheritance pattern, frequency, and additional scientific articles and references related to white sponge nevus. This catalog supports the advocacy for patient testing and provides resources for further understanding the condition.

Genes Associated with White Sponge Nevus

The following genes have been associated with white sponge nevus:

• KRT4
• KRT13

By studying these genes and their altered forms, researchers aim to gain a better understanding of the genetic mechanisms underlying white sponge nevus. This knowledge can potentially lead to improved diagnostic testing and treatment options for patients.

For more information on white sponge nevus and other related diseases, OMIM can serve as a valuable resource. Its catalog provides detailed information about the conditions, known genes, inheritance, and associated symptoms. This comprehensive database allows researchers and healthcare professionals to stay updated on the latest scientific advancements in the field.

Scientific Articles on PubMed

White sponge nevus is a rare genetic condition that affects the mucosal tissues, especially in the oral cavity. It is associated with mutations in the genes coding for keratins, which are the structural proteins that form the basis of skin, hair, and nails.

There has been extensive scientific research on white sponge nevus, with many articles available on PubMed. These articles provide valuable information about the condition, its causes, frequency, and inheritance pattern. They also offer insights into testing for the altered genes and the associated clinical features.

The articles on PubMed support the advocacy for genetic testing and provide resources for healthcare professionals and patients to learn more about this condition. They also catalog information about other keratin-related diseases and the genes that are altered in these conditions.

Some of the articles on PubMed focus on the clinical presentation of white sponge nevus and provide radiological, histopathological, and genetic information. They discuss the folded and white appearance of the oral mucosa and highlight the importance of genetic testing for accurate diagnosis.

With the help of scientific articles on PubMed, researchers have identified several genes associated with white sponge nevus, including KRT4 and KRT13. These genes play a crucial role in keratin formation and have been found to be altered in patients with this condition.

In addition to the genetic aspects, the articles also discuss the management and treatment options for white sponge nevus. They emphasize the importance of regular follow-up and oral hygiene practices to prevent complications.

Overall, the scientific articles available on PubMed provide valuable information about white sponge nevus and its genetic basis. They contribute to our understanding of this rare condition and help to improve clinical management and patient care.

• Learn more about white sponge nevus:
• OMIM – Online Mendelian Inheritance in Man: 193900
• References:
• Al-Abeissy N, et al. White sponge nevus: A rare hereditary disorder. Case Rep Dent. 2016;2016:4248927. doi:10.1155/2016/4248927.
• Liu Y, Zhang W. Clinico-radiological and histopathological characteristics of white sponge nevus on maxillary mucosae. J Craniofac Surg. 2016 May;27(3):600-4. doi: 10.1097/SCS.0000000000002468.
• Surg Radiol Anat. 2019 Dec;41(12):1543-1549. doi: 10.1007/s00276-019-02327-3. Epub 2019 Sep 7.

References

• Scientific catalog – A catalog that provides a comprehensive list of scientific references on various topics. It is a valuable resource for researchers and scientists looking for information on white sponge nevus.
• Catalog of references from other support surg – A catalog that contains references from other medical and surgical support groups. These references can provide additional information and support for patients with white sponge nevus.
• Genes and nevus – Information about the genes associated with white sponge nevus and their role in the development of the condition.
• PubMed – A database of scientific articles and research papers. It provides a wealth of information on various genetic conditions including white sponge nevus.
• Genetic testing resources – Information about genetic testing centers and resources that offer testing for white sponge nevus and other genetic conditions.
• Advocacy center – An organization dedicated to raising awareness and providing support for individuals with white sponge nevus and other rare genetic diseases.
• Radiol – Pertaining to radiology, a branch of medicine that uses imaging techniques to diagnose and treat diseases. Radiological imaging can be useful in diagnosing white sponge nevus.
• OMIM – Online Mendelian Inheritance in Man, a comprehensive database that provides information on genetic conditions, including white sponge nevus.
• Additional articles – Additional scientific articles and research papers that provide further insights into the causes and treatment of white sponge nevus.
• Oral mucosal keratins – Keratins are a family of proteins that are important for the structure and function of the oral mucosae. Studies have identified alterations in keratin genes associated with white sponge nevus.
• Learn more about white sponge nevus – Information about the condition, its symptoms, and treatment options. It provides a comprehensive overview of white sponge nevus for patients and their families.