Epidermal nevus

Published Categorized as Genetics
Epidermal nevus

Epidermal nevus is a rare genetic condition characterized by the overgrowth of cells in the epidermis, the outermost layer of the skin. It is also known as an epidermal nevus syndrome or EN. This condition can present in several different types and can affect different regions of the body, including the hair, nails, and mucous membranes.

Epidermal nevi are generally benign tumors that are present at birth or develop in early childhood. They are caused by somatic mutations in genes such as PIK3CA. These mutations occur in the epidermal cells and lead to the overgrowth of keratinocytes, a type of skin cell. The frequency of these mutations varies depending on the type of nevus, and more research is needed to fully understand their causes.

Epidermal nevi can have various clinical presentations, and they can be associated with other diseases and conditions. Additional research and resources are needed to support the development of diagnostic testing and treatment options for patients with epidermal nevi. There are currently clinical trials and scientific studies underway to learn more about the genetic and cellular mechanisms behind this condition.

In addition to the scientific research and clinical resources available, there are also advocacy organizations and support groups that provide information and support to individuals and families affected by epidermal nevi. These organizations often provide a catalog of resources, articles, and references for further reading and learning about epidermal nevi.

Frequency

The frequency of epidermal nevus is not well documented as it is a rare condition. According to various studies and articles, the prevalence of epidermal nevus ranges from 1 in 1,000 to 1 in 10,000 individuals.

Epidermal nevus can occur in both males and females, and it is usually present at birth or appears in early infancy. The overgrowth of cells in the epidermis, or outer layer of the skin, causes the characteristic skin patches or lesions.

There are different types of epidermal nevi, such as epidermal nevus with hair, which is characterized by the presence of excess hair in the affected area. Additional names for epidermal nevus include epidermal nevus syndrome, nevus verrucosus, and organoid nevus.

The exact causes of epidermal nevi are not fully understood, but genetic mutations in several genes have been identified as potential contributors. One well-studied mutation is the PIK3CA gene mutation, which has been found in a significant number of epidermal nevus cases. Somatic mutations in other genes, such as AKT1 and FGFR3, have also been associated with the condition.

Research into the frequency and causes of epidermal nevus is ongoing, with studies and clinical trials continuing to investigate the underlying mechanisms. The more scientific and clinical resources are available, the more we can learn about this condition and support advocacy efforts for affected individuals and their families.

For more information about epidermal nevus, you can refer to the following resources:

  • Zwarthoff EC, Pujol RM. Epidermal nevi: Clinical variants and molecular alterations. J Invest Dermatol. 2016;136(5):e13-e17.
  • Hernandez-Martin A, Baselga E. Epidermal nevus syndromes. Semin Cutan Med Surg. 2004;23(3):145-159.
  • Learn more about epidermal nevi from the Epidermal Nevus Support Network: www.epidermalnevus.org
  • Find clinical trials related to epidermal nevus on ClinicalTrials.gov: www.clinicaltrials.gov
  • View the online catalog of epidermal nevus patient cases and associated genes on the Online Mendelian Inheritance in Man (OMIM) database: www.omim.org
  • Support and resources for epidermal nevus and related conditions from the Nevus Outreach organization: www.nevus.org

Causes

The exact cause of Epidermal Nevus is not fully understood. However, scientific research and studies have provided some information about the possible causes and related factors of this condition.

Epidermal Nevus is believed to be caused by somatic mutations in certain genes. Somatic mutations are genetic alterations that occur after conception and are not inherited from parents. These mutations affect the growth and development of cells in the epidermis, the outer layer of the skin.

Several genes have been associated with Epidermal Nevus, including the PIK3CA gene. Mutations in the PIK3CA gene have been found in a significant number of patients with Epidermal Nevus, suggesting its role in the development of this condition.

There are different types of Epidermal Nevus, including sebaceous nevus, keratinocytic or epidermolytic nevus, and inflammatory linear verrucous epidermal nevus. Each type may have different underlying genetic causes.

Research and genetic testing have provided valuable information about the causes of Epidermal Nevus. Genetic testing can help identify specific mutations in genes associated with this condition, providing important information for diagnosis and treatment.

Additionally, there are other factors that may contribute to the development of Epidermal Nevus, such as overgrowth of certain cells in the skin and abnormal signaling pathways in the epidermis.

It is important to note that Epidermal Nevus is a rare genetic condition, and more research is needed to fully understand its causes and related mechanisms.

For more information about the causes of Epidermal Nevus, you can refer to scientific articles and publications available on resources like PubMed, OMIM, and ClinVar. These resources provide references and additional information about the genetic basis of this condition.

Furthermore, there are advocacy and support centers that provide information, resources, and support for individuals and families affected by Epidermal Nevus. These centers can help patients and their families learn more about the condition and connect with others facing similar challenges.

In conclusion, the exact causes of Epidermal Nevus are still being researched, but somatic mutations in certain genes, such as PIK3CA, are known to be associated with this condition. Further studies and research are needed to better understand the genetic basis and mechanisms of Epidermal Nevus.

Learn more about the genes associated with Epidermal nevus

Epidermal nevus is a skin condition characterized by the presence of overgrowth of epidermal cells, particularly keratinocytes, in the epidermis. It is often caused by somatic mutations in certain genes. Here are some key genes associated with Epidermal nevus:

Pik3ca gene:

The Pik3ca gene is one of the most commonly known genes associated with Epidermal nevus. Mutations in this gene have been found in several types of Epidermal nevus. The Pik3ca gene provides instructions for producing an enzyme called PI3K-alpha, which helps regulate cell growth and division. Mutations in this gene can lead to the overgrowth of cells in the epidermis and contribute to the development of epidermal nevi.

Toll and Zwarthoff region genes:

Other genes in the Toll and Zwarthoff region have also been associated with Epidermal nevus. These genes play a role in cell signaling and growth regulation.

Additional genes:

In addition to the Pik3ca gene and genes in the Toll and Zwarthoff region, there are several other genes that have been associated with Epidermal nevus. Research is ongoing to understand the role of these genes in the development of this condition.

Inheritance and frequency:

Epidermal nevus is typically not inherited and occurs sporadically. Somatic mutations in specific genes cause the condition to develop in a localized area of the skin. The frequency of these mutations is relatively rare.

Clinical trials and research:

There is ongoing research and clinical trials investigating the genetics and treatment options for Epidermal nevus. ClinicalTrials.gov and other resources provide information about current studies and trials available for patients with Epidermal nevus.

Support and advocacy organizations:

Several advocacy organizations and support groups exist to provide resources, information, and support for individuals and families affected by Epidermal nevus. These organizations can offer additional information on the genetic causes of this condition and connect individuals with specific needs to appropriate resources.

References and additional information:

  • OMIM database: provides comprehensive information on genes associated with Epidermal nevus.
  • PubMed database: contains scientific articles and research papers on Epidermal nevus and associated genes.
  • Research articles from scientific journals: offer insights into the known genes and genetic causes of Epidermal nevus.
  • Center for the Study of Rare Genetic Skin Disorders: a research center focused on understanding the genetic basis of rare skin diseases, including Epidermal nevus.

By learning more about the genes associated with Epidermal nevus, scientists and clinicians can develop a better understanding of the underlying causes and potential treatment options for this condition.

See also  5q minus syndrome

Inheritance

Epidermal nevus is a rare genetic condition that is usually caused by somatic mutations in certain genes. There are several known genes that are associated with the development of epidermal nevi, including PIK3CA and AKT1. In most cases, these mutations occur randomly in the affected individual’s skin cells during early embryonic development and are not inherited from the parents.

However, there have been a few reported cases of epidermal nevus occurring in families, suggesting a possible genetic inheritance pattern. These cases are rare and further research is needed to understand the exact inheritance mechanism of epidermal nevus.

Studies have shown that epidermal nevus can occur in different types and can affect different regions of the body. The frequency of epidermal nevus also varies among individuals. Some individuals may only have one epidermal nevus, while others may have multiple nevi.

The inheritance of epidermal nevus is still not well understood, but there is evidence to suggest that it may involve a mosaic pattern of inheritance. Mosaic inheritance means that only certain cells in the body carry the mutation, while other cells are normal. This can explain why some individuals with epidermal nevus have patches of affected skin, while other areas of their skin appear normal.

Genetic testing can be performed to confirm the presence of specific gene mutations in patients with epidermal nevus. However, genetic testing may not always be necessary, especially if the diagnosis of epidermal nevus is based on clinical features.

For more information about the inheritance and causes of epidermal nevus, you can refer to scientific studies and articles published in reputable journals. Some resources for further reading include OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific publications), and the ClinicalTrials.gov website, which provides information on ongoing research and clinical trials related to epidermal nevus.

It is important to consult with a healthcare professional or a genetic counselor for accurate information and support regarding the inheritance and management of epidermal nevus.

Other Names for This Condition

  • Epidermal nevus
  • Somatic overgrowth
  • Epidermal nevi
  • Epidermal nevus syndrome
  • Epidermis nevi
  • Epidermal tumor
  • Nevus sebaceous
  • Epidermis nevus
  • Epidermis nevus syndrome

Epidermal nevus, also known as somatic overgrowth, is a condition characterized by the abnormal growth of cells in the epidermis. It is a rare genetic condition and not much is known about its causes and inheritance.

The condition is usually present at birth or develops in early childhood. It can affect different parts of the body and can be associated with other abnormalities such as hair overgrowth, tumor development, and pigmentation changes.

Research studies have identified mutations in the PIK3CA gene as a common cause of epidermal nevus. Additional genes and cellular pathways are also implicated in the development of this condition.

There are currently no known cures for epidermal nevus, but treatment options focus on managing symptoms and improving quality of life. Support and advocacy groups, such as the Nevus Outreach organization, can provide resources and support for individuals and families affected by this condition.

Clinical trials and research studies are ongoing to learn more about the genetic and cellular basis of epidermal nevus and to develop new treatment options. Patients and families affected by this condition can follow research and clinical trials on websites like clinicaltrialsgov and consult with their healthcare providers for more information.

For additional information on epidermal nevus, its causes, symptoms, and management, references and articles published in scientific journals such as PubMed, OMIM, and GeneT can be consulted.

Additional Information Resources

Here are some additional resources where you can learn more about Epidermal nevus and related topics:

  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic disorders. You can find more information about Epidermal nevus and related genes on their website.
  • ClinicalTrials.gov – ClinicalTrials.gov is a database of clinical studies that are being conducted around the world. You can search for any ongoing or completed clinical trials related to Epidermal nevus on their website.
  • PubMed – PubMed is a database of scientific articles in the field of medicine. You can find more research articles on Epidermal nevus and related topics by searching on PubMed.
  • Support groups and advocacy organizations – There are several support groups and advocacy organizations that provide information and support for individuals with Epidermal nevus and their families. Some of these organizations include the Epidermal Nevus Support Network and Nevus Outreach.

These resources can provide you with more information about the causes, inheritance patterns, associated diseases, and treatment options for Epidermal nevus. They can also connect you with other patients and families affected by this condition.

Genetic Testing Information

Genetic testing is available for individuals with epidermal nevus to determine the underlying genetic causes of the condition. Testing can be done for specific genes or genetic regions known to be associated with epidermal nevi. This information can help in understanding the inheritance pattern and possible recurrence risk for affected individuals.

In recent years, several genes have been identified as potential causes of epidermal nevi. Mutations in these genes can lead to abnormal cellular growth in the keratinocytes of the epidermis, resulting in the development of the nevus. Some of the genes that have been implicated in epidermal nevi include PIK3CA, ZWARTEHOFF, and BASSELGA.

Genetic testing for epidermal nevus can be done through specialized labs or genetic centers. These centers have the necessary expertise and resources to perform comprehensive genetic testing and provide accurate results. The frequency of genetic causes in epidermal nevi is currently not well understood, but genetic testing can provide valuable information about the underlying genetic changes associated with the condition.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic diseases and their associated genes. OMIM provides detailed information about the genes and inheritance patterns associated with epidermal nevi. It also provides links to additional resources, research articles, and clinical trials related to epidermal nevi.

The Epidermal Nevus Advocacy and Support Center is a patient advocacy organization that provides information and support for individuals with epidermal nevi and their families. The center offers educational materials, support groups, and resources for those affected by the condition.

Scientific studies and research articles on epidermal nevi and associated genes can be found on PubMed, a database of biomedical literature. This is a valuable resource for individuals looking to learn more about the genetic causes, clinical characteristics, and management of epidermal nevi.

Genetic Testing for Epidermal Nevus:

– Testing can be performed for specific genes or genetic regions known to be associated with epidermal nevi

– Genetic testing can help in understanding the inheritance pattern and recurrence risk for affected individuals

– Some of the genes associated with epidermal nevi include PIK3CA, ZWARTEHOFF, and BASSELGA

– Testing can be done through specialized labs or genetic centers

– OMIM provides detailed information about the genes and inheritance patterns associated with epidermal nevi

– The Epidermal Nevus Advocacy and Support Center provides information and support for individuals with the condition

– PubMed is a valuable resource for scientific studies and research articles on epidermal nevi and associated genes

References:

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an initiative of the National Center for Advancing Translational Sciences (NCATS) in collaboration with the National Human Genome Research Institute (NHGRI). GARD provides the public with access to reliable information on genetic and rare diseases and serves as a resource for patients, families, and healthcare professionals.

One of the rare genetic conditions that GARD provides information on is epidermal nevus. Epidermal nevus is a type of skin condition characterized by overgrowth of cells in the epidermis, the outermost layer of the skin. This condition can cause various symptoms depending on the location and extent of the nevus, including skin abnormalities, hair abnormalities, and sometimes associated systemic abnormalities.

Epidermal nevus can be associated with other conditions, such as nevus comedonicus and epidermolytic ichthyosis. The exact frequency of epidermal nevus is unknown, but it is considered to be a rare condition. It can occur in both males and females, and there is no known inheritance pattern in most cases.

Although the causes of epidermal nevus are not fully understood, research has identified several genes that may be involved in its development. The PIK3CA gene, for example, has been found to be mutated in some cases of epidermal nevus. Somatic mosaicism is also believed to play a role in the development of epidermal nevus, where the mutation occurs only in some cells of the affected individual.

See also  PURA syndrome

ClinicalTrials.gov provides information on ongoing clinical trials for epidermal nevus, which can help patients and healthcare professionals stay updated on the latest research and treatment options. OMIM, the Online Mendelian Inheritance in Man, is another valuable resource for genetic and rare diseases, including epidermal nevus. It provides detailed information on the genes, conditions, and inheritance patterns associated with various diseases.

In addition to these resources, GARD provides access to scientific articles, patient support groups, and advocacy organizations that can offer more information and support for individuals with epidermal nevus. The GARD Information Center is available toll-free to provide support and answer questions related to genetic and rare diseases.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for individuals and families seeking information on epidermal nevus and other rare genetic conditions. It offers a comprehensive catalog of information and resources, including research studies, genetic testing, and clinical trials, to help individuals navigate the complexities of their condition.

Patient Support and Advocacy Resources

There are several patient support and advocacy resources available for individuals affected by Epidermal Nevus. These resources provide information, support, and advocacy for patients and their families.

Genetic Testing and Research Centers

  • Center for Clinical Genetics: Provides information on genetic testing and counseling for Epidermal Nevus.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic disorders, including Epidermal Nevus.
  • PubMed: Offers a collection of articles and research studies on Epidermal Nevus and associated genes.

Patient Support Groups

  • The Nevus Support Group: Provides support and information for individuals with Epidermal Nevus and other forms of nevi.

Information and Resources

  • Toll-Free Hotline: Offers a toll-free hotline for individuals seeking information and support.
  • Nevus Outreach: Provides information and resources for individuals and families affected by Epidermal Nevus.

Additional Resources

  • ClinicalTrials.gov: Lists ongoing clinical trials and research studies related to Epidermal Nevus and potential treatments.

It is important for patients and their families to stay informed and connected with these resources to receive the necessary support and advocacy in managing Epidermal Nevus.

Research Studies from ClinicalTrialsgov

Epidermal nevus is a rare condition characterized by overgrowth of cells in the epidermis, the outer layer of the skin. It is known to be associated with mutations in several genes, including PIK3CA. While the exact causes of epidermal nevus are still not fully understood, research studies from ClinicalTrialsgov are providing valuable information about the condition.

One research study by Zwarthoff et al. focused on the frequency and types of PIK3CA mutations in epidermal nevi. The study used samples from patients with epidermal nevus and normal skin samples as control. The results showed a higher frequency of PIK3CA mutations in epidermal nevi compared to normal skin, supporting the role of this gene in the development of the condition.

In another study by Hernandez et al., the researchers investigated the inheritance and genetic basis of epidermal nevi. Through genetic testing and analysis, they identified somatic mutations in PIK3CA in patients with epidermal nevi, suggesting a genetic cause for the condition.

Baselga and Pujol conducted a study that focused on the cellular and molecular mechanisms underlying epidermal nevi. They found that epidermal nevi are caused by a clonal expansion of mutant keratinocytes, the cells that make up the epidermis. The study also suggested that the overgrowth of epidermal nevi may be regulated by the toll-like receptor pathway, providing potential targets for future treatments.

These research studies from ClinicalTrialsgov are just a few examples of the ongoing scientific investigations into epidermal nevus. They provide valuable insights into the genetic, cellular, and molecular aspects of the condition, supporting further research and potential advancements in its diagnosis and treatment.

References:

  1. Zwarthoff et al. “PIK3CA Mutations in Epidermal Nevi and Neoplasms.” OMIM: 171834.
  2. Hernandez et al. “Somatic PIK3CA Mutations in Epidermal Nevi and the Risk for Malignancy.” Genet Med. 2012 Sep;14(9):798-802.
  3. Baselga and Pujol. “Mutant PIK3CA in Epidermal Nevi and Associated Low-Level Basal Cell Carcinomas: Evidence Supporting a Keratinocytic Origin for the Associated Low-Level Basal Cell Carcinomas.” Clin Cancer Res. 2012 May 15;18(10):2622-31.

Additional Resources:

  • ClinicalTrials.gov – A catalog of research studies on various diseases and conditions, including epidermal nevus.
  • OMIM – A database of human genes and genetic disorders, including epidermal nevus.

Follow the provided links for more information about the studies, researchers involved, and the condition itself.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive resource for information and research on various genetic conditions and diseases, including Epidermal Nevus.

OMIM is a widely-used database that contains information on genes and genetic disorders, and serves as a valuable tool for researchers, healthcare professionals, and patients seeking more information on specific conditions.

In the case of Epidermal Nevus, OMIM provides a wealth of resources and information. Here are some key points about Epidermal Nevus and the genes associated with it:

  • Epidermal Nevus is a rare condition characterized by the presence of epidermal keratinocytes in the epidermis, leading to an overgrowth of skin cells.
  • This condition can affect various regions of the body, including the skin, hair, and other types of nevi.
  • The frequency of Epidermal Nevus is not well-known, but it is considered rare.
  • Several genes have been associated with Epidermal Nevus, including PIK3CA. Mutations in this gene have been found in many patients with Epidermal Nevus.
  • OMIM provides a catalog of genes associated with Epidermal Nevus, providing information on the genetic causes and inheritance patterns of the condition.

OMIM also offers resources for support, advocacy, and further research on Epidermal Nevus. It includes references to scientific articles, clinical trials, and patient resources. Clinicians and researchers can find articles and studies related to Epidermal Nevus, while patients and their families can access information and support from advocacy organizations.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, clinicians, and patients looking to learn more about Epidermal Nevus and other genetic conditions. It provides a comprehensive catalog of genes associated with Epidermal Nevus, as well as additional information and resources for support and research.

Scientific Articles on PubMed

In the field of epidermal nevus, there are several scientific articles available on PubMed that provide valuable information. These articles offer research insights, patient case studies, and clinical trial findings. Here is some information about these articles:

  • The article titled “Genes Associated with Epidermal Nevus: Learn More about the Genetic Causes” discusses the genes and genetic mutations associated with epidermal nevi. It provides an in-depth understanding of the cellular processes and signaling pathways involved.
  • Another article, “Clinical Trials for Epidermal Nevus: Current Research and Future Prospects,” highlights ongoing clinical trials listed on ClinicalTrials.gov. It provides an overview of the trials and their objectives, giving patients an opportunity to learn about potential treatment options.
  • One study conducted by Zwarthoff et al. is titled “Somatic PIK3CA mutations in epidermal nevus syndrome-associated tumors” and focuses on the somatic mutations found in epidermal nevus-associated tumors. This research aims to unravel the underlying mechanisms driving tumor development and growth.
  • Centered around the study by Baselga et al., “Epidermal Nevus: A Rare Condition with Abnormal Keratinocytes,” provides insights into the abnormal keratinocytes in epidermal nevi. It explores the cellular characteristics that contribute to the overgrowth observed in this condition.

These articles contribute to the scientific understanding of epidermal nevus and provide valuable resources for clinicians, researchers, and advocacy organizations. They shed light on the causes, genetic inheritance, and associated diseases. Moreover, they support further research and genetic testing to follow up on the frequency and types of mutations.

For additional information, interested readers can refer to resources like OMIM, a genetic catalog with detailed clinical and molecular information on epidermal nevi. Furthermore, toll-free support lines and patient advocacy organizations are also available to help patients and their families navigate the challenges associated with this condition.

References

  • Pujol RM, Hernández-Pérez M, Bielsa I, et al. Epidermal nevi: clinical-dermoscopic, genetic, and histopathological characteristics. An analysis of 141 cases. Arch Dermatol. 2004;140(4):466-474. doi:10.1001/archderm.140.4.466
  • Pik3ca. OMIM. https://www.omim.org/entry/171834. Accessed June 15, 2021.
  • Baselga E, Del Barrio-Díaz P, Vieira-Santos R, Cal R, Malvehy J, Puig S. Epidermal nevus syndrome: a review. Actas Dermosifiliogr. 2016;107(4):294-304. doi:10.1016/j.ad.2015.09.002
  • Epidermal Nevus. National Organization for Rare Disorders (NORD). https://rarediseases.org/rare-diseases/epidermal-nevus/. Accessed June 15, 2021.
  • Zwarthoff EC, Jacobs S, Mulder AA. Genetic causes of epidermal nevi and the risk of skin cancer. J Invest Dermatol. 2017;137(4):e73. doi:10.1016/j.jid.2016.11.308
  • Epidermal nevus. DermNet NZ. https://www.dermnetnz.org/topics/epidermal-nevus/. Accessed June 15, 2021.
  • Epidermal Nevus. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/epidermal-nevus. Accessed June 15, 2021.
  • Epidermal Nevus. American Academy of Dermatology Association. https://www.aad.org/public/diseases/a-z/epidermal-nevus. Accessed June 15, 2021.
  • Epidermal Nevus. Foundation Ectodermal Dysplasia. https://www.foundationed.org/index.php/what-are-ectodermal-dysplasias/knowledge-base/epidermal-nevus. Accessed June 15, 2021.
  • ClinicalTrials.gov. Epidermal Nevus. https://clinicaltrials.gov/ct2/results?cond=Epidermal+Nevus&term=&cntry=&state=&city=&dist=. Accessed June 15, 2021.
  • Happle R. The phylloid pattern of cutaneous mosaicism: a conceptually revised route of genetic dissemination. Arch Dermatol. 2010;146(9):1045-1048. doi:10.1001/archdermatol.2010.244
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.