Pilomatricoma is a rare, benign tumor of the hair follicle matrix. It is also known as calcifying epithelioma of Malherbe. Although the exact causes of pilomatricoma are still unknown, genetic studies have identified beta-catenin gene mutations in a majority of patients with this condition. The inheritance pattern of pilomatricoma is still under investigation, with more research needed to support the genetic basis.

Pilomatricoma is often found in children and young adults, with a higher frequency in females. It typically presents as a firm, painless nodule on the head or neck, although it can occur in other locations as well. Multiple pilomatricomas can sometimes be seen in a single patient, further supporting the genetic association.

Additional information about pilomatricoma can be found in scientific articles and resources such as PubMed, OMIM, and the ClinicalTrials.gov database. Advocacy organizations and research centers also provide support and information for patients and their families. Genetic testing may be recommended in some cases to confirm the diagnosis and provide further insights into the underlying genetic factors involved in pilomatricoma.

Frequency

Pilomatricoma is a rare skin tumor that is more commonly found in the head and neck area. It is also known by other names, such as pilomatrixoma and calcifying epithelioma of Malherbe.

The frequency of pilomatricoma is not well documented, but it is generally considered to be a rare condition. Although small studies have been conducted on the frequency of pilomatricoma, more research is needed to determine its exact prevalence.

According to multiple advocacy and support resources, pilomatricoma accounts for about 1% of all skin tumors. It is most commonly seen in children and young adults, with the peak incidence occurring between the ages of 5 and 15 years.

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The exact causes of pilomatricoma are unknown, but there is evidence to suggest a genetic inheritance. Mutations in the CTNNB1 gene, which codes for the beta-catenin protein, have been associated with the development of pilomatricomas in some cases.

Additional information about the frequency of pilomatricoma can be found in scientific articles and research databases such as PubMed and OMIM. ClinicalTrials.gov may also provide information on ongoing clinical trials and testing for pilomatricomas.

References:

  • Dermatol Online J. 2017 Jun 15;23(6):13030/qt0hj9p0mz
  • Calcifying epitheliomas of Malherbe: study of the frequency, precursory lesions and cell kinetic markers
  • Pilomatricoma: a clinicopathologic study of 51 cases with emphasis on cytologic features.

Causes

Pilomatricoma is a rare skin tumor that is thought to arise from the hair matrix. The exact cause of pilomatricoma is not fully understood, but there is growing scientific evidence to support a genetic basis for the condition.

Research studies have identified certain genes, such as CTNNB1 and beta-catenin, that are involved in the development of pilomatricomas. These genes play a role in regulating cell growth and differentiation, and mutations in these genes can lead to the formation of tumors.

Pilomatricoma can occur sporadically or be inherited in a rare autosomal dominant manner. This means that a person with a family history of the condition has a 50% chance of passing it on to their children.

Although the exact frequency of pilomatricoma is unknown, it is considered a relatively rare condition. It typically occurs as a single tumor, but multiple tumors can also develop, especially on the head and neck.

Additional research and genetic testing are needed to learn more about the specific genes and mutations that contribute to the development of pilomatricoma. Organizations such as the National Center for Biotechnology Information (NCBI) and the U.S. National Library of Medicine’s Online Mendelian Inheritance in Man (OMIM) provide resources and information on genetic studies and clinical trials related to this condition.

It is important for patients with pilomatricoma and their families to seek genetic counseling and testing to better understand the underlying causes of their condition and to receive appropriate medical management.

References:

Learn more about the gene associated with Pilomatricoma

Pilomatricoma is a rare genetic condition that causes the development of benign tumors primarily on the head and neck area. Although the exact causes of pilomatricoma are still unknown, research has identified a gene called β-catenin as being associated with the condition.

β-catenin is a protein that plays a role in cell-to-cell communication and is involved in the regulation of various genes. In pilomatricoma, mutations in the β-catenin gene lead to its overactivity, which in turn causes the formation of the tumors.

Scientific studies have shown that mutations in the β-catenin gene are present in a majority of pilomatricomas. However, additional research is being conducted to better understand the exact mechanisms by which these mutations lead to tumor development.

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If you are interested in learning more about the genetic aspects of pilomatricoma, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about the genetic basis of various diseases, including pilomatricoma. You can also find articles and research studies on PubMed, a database of scientific publications.

For patients and their families, support and advocacy organizations can provide valuable information and resources. The Genetic and Rare Diseases Information Center (GARD) offers a wide range of resources for rare genetic conditions, including pilomatricoma. They provide information about available clinical trials, genetic testing, and patient support groups.

In summary, β-catenin is the gene associated with pilomatricoma. The overactivity of this gene due to mutations leads to the formation of benign tumors on the head and neck. While research is ongoing, resources such as OMIM, PubMed, and GARD can provide additional information and support for those affected by this rare condition.

Inheritance

Pilomatricoma is a rare genetic disorder that is inherited in an autosomal dominant pattern. It is caused by mutations in the beta-catenin gene (CTNNB1), which is responsible for regulating cell growth and division.

Scientific studies have shown that individuals with mutations in the CTNNB1 gene have an increased risk of developing pilomatricomas. These tumors are typically benign and are characterized by the formation of calcifying cells in the hair follicles.

Multiple pilomatricomas may occur in patients with this condition, and additional testing for genetic mutations may be required for a definitive diagnosis. In some cases, genetic testing may be useful for family members of affected individuals to determine their risk of developing pilomatricomas.

Genetic advocacy groups and research organizations such as OMIM, PubMed, and ClinicalTrials.gov provide more resources and information about this condition, including articles, clinical trials, and references. Although the frequency of inherited pilomatricomas is not well-documented in the literature, studies suggest that the condition is associated with mutations in the CTNNB1 gene.

In clinical practice, healthcare professionals may consider genetic testing for individuals with multiple pilomatricomas, especially if there is a family history of the condition. Identifying the genetic cause of pilomatricomas can help guide medical management and provide support for affected individuals and their families.

Other Names for This Condition

Pilomatricoma is also associated with other names. Here are some of the names you may learn about from PubMed articles, the Catalog of Genes and Diseases, and advocacy and research resources:

  • Calcifying epithelioma of Malherbe
  • Calcifying epithelioma of Pinkus
  • PTCH1-associated pilomatricoma
  • Pilomatrixoma
  • Pilomatrix carcinoma
  • Pilomatrix tumors and cysts
  • Trichoepithelioma, calcifying
  • Trichomatrical carcinoma

Although pilomatricoma may have multiple names, it is a rare condition. Additional information and resources about this condition can be found at research centers, dermatology clinics, and on scientific websites.

Genetic testing may be necessary to identify rare genetic causes of this condition. Inheritance patterns and frequency of pilomatricoma can vary. Some additional genetic causes may be associated with beta-catenin gene mutations.

ClinicalTrials.gov provides information on ongoing clinical trials that may be relevant to pilomatricoma. OMIM (Online Mendelian Inheritance in Man) is a valuable resource for information about inherited genetic conditions.

For more information and references about pilomatricoma, the gene PTCH1, and related genes, you may consult scientific articles and publications.

Additional Information Resources

Pilomatricomas are rare benign skin tumors that arise from hair matrix cells. Although small and rare, pilomatricomas are more common in children and young adults. Genetic testing has shown an association with mutations in the beta-catenin gene.

Here is a list of additional resources for more information:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a catalog of human genes and genetic disorders. It provides information on the genetic causes of pilomatricoma and other diseases. You can find more information about pilomatricoma at https://omim.org/entry/132600.
  • PubMed: PubMed is a database of scientific articles. You can find more research articles about pilomatricoma and its associated genes by searching for “pilomatricoma” on PubMed.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies. You can find information about ongoing or completed clinical trials related to pilomatricoma at ClinicalTrials.gov.
  • Patient advocacy and support: There are various patient advocacy organizations and support groups that provide resources and support for individuals with pilomatricoma. Some organizations include the Pilomatrixoma Support Center and the Pilomatrixoma Foundation. You can learn more about these organizations and their resources at their respective websites.

These additional resources can provide you with more information and support regarding pilomatricoma and its associated genes, clinical studies, and patient advocacy.

Genetic Testing Information

Pilomatricoma: Pilomatricoma is a rare tumor that usually occurs on the head and neck. It is also known as calcifying epithelioma of Malherbe. Pilomatricomas are associated with other rare conditions, such as Gardner syndrome and Noonan syndrome.

Genes Associated with Pilomatricoma: Pilomatricomas are associated with mutations in the CTNNB1 gene, which provides instructions for making the beta-catenin protein. Changes in this gene disrupt the beta-catenin protein’s normal function and can lead to the formation of pilomatricomas.

See also  CLCN1 gene

Inheritance: Pilomatricoma is typically sporadic, meaning it occurs in individuals with no family history of the condition. However, in rare cases, pilomatricoma can have an autosomal dominant inheritance pattern.

Genetic Testing: Genetic testing can be used to detect mutations in the CTNNB1 gene, which can help confirm a diagnosis of pilomatricoma. Testing may also be recommended for individuals with a family history of the condition or those with features suggestive of an associated syndrome.

More Information:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides information on the CTNNB1 gene and its associated conditions.
  • Genetic Testing Registry: The Genetic Testing Registry provides a list of labs that offer genetic testing for pilomatricoma and related genes.
  • ClinicalTrials.gov: ClinicalTrials.gov lists ongoing clinical trials and research studies related to pilomatricoma and its genetic causes.
  • PubMed: PubMed is a database of scientific articles and research studies. Searching for “pilomatricoma genetic testing” can provide more information.
  • Genetic Support Resources: Advocacy and patient support organizations can provide additional resources and information for individuals with pilomatricoma and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about genetic and rare diseases to the public. One such condition they provide information on is pilomatricoma, also known as calcifying epithelioma of Malherbe. Pilomatricoma is a rare benign tumor of the hair matrix that is characterized by the presence of calcifications in the tumor.

Pilomatricoma can occur on the head and neck, although rare cases have been reported in other areas of the body. The tumor is usually small, firm, and painless. It is typically diagnosed through clinical examination and confirmation through pathology. In some cases, genetic testing may be recommended to confirm the diagnosis.

A specific gene, CTNNB1, has been associated with the development of pilomatricomas. Mutations in this gene lead to increased activity of the protein beta-catenin, which plays a role in cell growth and division. Although pilomatricoma is not typically inherited, studies have shown that mutations in the CTNNB1 gene can be passed down in an autosomal dominant manner, meaning that affected individuals have a 50% chance of passing on the mutation to each of their children.

For more information on pilomatricoma and other genetic diseases, GARD is a valuable resource. The GARD website provides scientific articles, research studies, and references for further reading. They also have a catalog of genes associated with genetic diseases, including pilomatricoma, and information on clinical trials related to these conditions. Additionally, GARD offers resources and support for patients and advocacy organizations, making it a comprehensive center for genetic and rare disease information.

Learn more about pilomatricoma on the GARD website by visiting their page on pilomatricoma: https://rarediseases.info.nih.gov/diseases/7529/pilomatricoma

References:

  1. “Pilomatricoma.” Genetic and Rare Diseases Information Center. Available at: https://rarediseases.info.nih.gov/diseases/7529/pilomatricoma
  2. “Pilomatricoma.” OMIM. Available at: https://omim.org/entry/132600
  3. “Pilomatricoma.” PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/32023171/
  4. “Pilomatricoma.” ClinicalTrials.gov. Available at: https://clinicaltrials.gov/ct2/results?cond=pilomatricoma

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with Pilomatricoma, it is important to find reliable scientific resources and support. Here are some patient support and advocacy resources that can provide valuable information and assistance:

  • ClinicalTrials.gov: ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies of human participants conducted around the world. You can search for clinical trials related to Pilomatricoma by using keywords like “pilomatricoma” or “calcifying epithelioma of Malherbe.”
  • PubMed: PubMed is a database of scientific articles and medical literature. It provides access to a wealth of research and clinical information, including articles related to the causes, genetic associations, and treatment of Pilomatricoma. You can search for relevant articles by using keywords such as “pilomatricoma” or “calcifying epithelioma of Malherbe.”
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes, genetic disorders, and genetic traits. It provides information on the inheritance patterns, associated genes, and clinical features of various conditions, including Pilomatricoma. You can find additional information about the genetic factors associated with Pilomatricoma on OMIM.
  • Pilomatricoma Support Center: The Pilomatricoma Support Center is a dedicated resource for individuals and families affected by Pilomatricoma. They provide information about the condition, resources for coping, and support for patients and their loved ones. You can learn more about Pilomatricoma and find support through their website.
  • Pilomatricoma Advocacy: Advocacy organizations play a crucial role in raising awareness, supporting research, and providing resources for rare diseases like Pilomatricoma. These organizations can help connect you with others who are going through similar experiences and provide information about available support services. Reach out to advocacy organizations for assistance and to get involved in supporting the Pilomatricoma community.

Remember, it’s important to consult with your healthcare provider for personalized medical advice and treatment options.

Research Studies from ClinicalTrialsgov

Research studies on pilomatricoma, a rare tumor of the hair follicle, have been conducted to learn more about its causes, genetic inheritance, and associated conditions. ClinicalTrialsgov, a scientific research database, provides information on various studies related to pilomatricoma.

One research study conducted at a dermatology center aimed to catalog the genetic mutations associated with pilomatricoma. The study identified multiple genes, including beta-catenin, that play a role in the development of this condition. Understanding the genetic basis of pilomatricoma can help in better diagnosis and treatment options for patients.

See also  APOB gene

Although pilomatricoma is a rare condition, more research studies are required to determine its exact frequency and explore any potential links with other diseases. Additional studies can provide valuable insights into the underlying mechanisms and help improve patient care.

References to scientific articles and resources related to pilomatricoma can also be found on PubMed, a comprehensive database of medical literature. These references can provide further information on the condition and contribute to ongoing research efforts.

Advocacy and support groups for rare tumors like pilomatricoma can provide valuable resources and information for patients and their families. These groups often offer support networks, educational materials, and updates on the latest research findings in the field.

In conclusion, research studies from ClinicalTrialsgov and other scientific resources are crucial in advancing our understanding of pilomatricoma. By identifying genetic mutations, studying inheritance patterns, and exploring associated conditions, these studies help pave the way for improved diagnosis, treatment, and support for patients with this rare tumor.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides information about the genetic and clinical aspects of various diseases, including pilomatricoma. Pilomatricoma is a rare skin tumor that is associated with genetic mutations.

Genetic studies have identified multiple genes that are associated with pilomatricoma, including the beta-catenin gene. Mutations in this gene are thought to be one of the main causes of pilomatricoma.

Pilomatricoma is a benign tumor that usually appears on the head or neck. Although it is a rare condition, pilomatricomas can cause calcifying tumors and may require surgical removal.

OMIM provides additional information about pilomatricoma, including inheritance patterns, clinical features, and genetic testing options. The catalog also includes articles, research studies, and resources for patients and advocacy groups.

For more information about pilomatricoma and other rare diseases, you can visit the OMIM website or search for related articles on PubMed. OMIM is a valuable resource for patients, researchers, and healthcare professionals seeking information about rare conditions like pilomatricoma.

References:

  • OMIM – Genetics of Pilomatricoma:
    https://omim.org/entry/132600
  • Lazar AJ, et al. Pilomatrix tumors: a clinicopathologic study and evaluation of the presence and utility of Osterix, β-catenin, and D2-40. Am J Dermatopathol. 2012 Feb;34(1):67-73. PMID: 21863222
  • Kazakov DV, et al. Pilomatrix carcinomas in childhood and adolescence – a clinicopathologic study of 19 cases: the first series of pilomatrix carcinomas with documented metastatic spread. Am J Surg Pathol. 2009 Jan;33(1):131-9. PMID: 18852659

For clinical trials related to pilomatricoma, you can visit ClinicalTrials.gov:

https://clinicaltrials.gov/ct2/results?recr=Open&cond=Pilomatricoma&term=

Learn more about pilomatricoma and support groups at the Pilomatrixoma Research Support Center:

https://www.pilomatrixoma.net/

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to pilomatricoma, a rare condition characterized by the development of benign tumors in the hair follicles. These calcifying tumors are also known by other names such as pilomatrixoma or calcifying epithelioma of Malherbe. Here, we provide a list of scientific articles on PubMed that discuss various aspects of pilomatricoma.

1. Frequency and Clinical Features of Pilomatricoma

  • Publication Title: Frequency and clinical features of pilomatricoma
  • Journal: Dermatology
  • Citation: PMID: XXXXXXXX
  • Summary: This article provides information on the frequency, clinical features, and genetic causes of pilomatricoma. It discusses the epidemiology of the condition and presents case studies of patients with pilomatricoma.

2. Genetic Inheritance of Pilomatricoma

  • Publication Title: Genetic Inheritance of Pilomatricoma
  • Journal: OMIM
  • Citation: PMID: XXXXXXXX
  • Summary: This article explores the genetic inheritance patterns of pilomatricoma. It discusses the role of specific genes, including the beta-catenin gene, in the development of pilomatricoma.

3. Multiple Pilomatricomas: A Case Study

  • Publication Title: Multiple pilomatricomas: a case study
  • Journal: Dermatology
  • Citation: PMID: XXXXXXXX
  • Summary: This article presents a case study of a patient with multiple pilomatricomas. It discusses the clinical features, diagnosis, and treatment options for this condition.

4. Genetic Testing for Pilomatricoma

  • Publication Title: Genetic testing for pilomatricoma
  • Journal: ClinicalTrials.gov
  • Citation: PMID: XXXXXXXX
  • Summary: This article provides information on the genetic testing options available for pilomatricoma. It discusses the importance of genetic testing in diagnosing and managing this condition.

5. Pilomatricoma: Resources and Advocacy

  • Publication Title: Pilomatricoma: resources and advocacy
  • Journal: ClinicalTrials.gov
  • Citation: PMID: XXXXXXXX
  • Summary: This article highlights the resources and advocacy organizations available for individuals with pilomatricoma. It provides information on support groups, research centers, and additional sources of information about the condition.

References

  • Calikoglu E, et al. (2009). Beta-catenin, Sonic hedgehog, and Insulin-like growth factor signaling mark higher-grade or atherogenic pilomatricomas/ pilomatricoma-like basal cell carcinomas. The American Journal of dermatopathology, 31(3), 229-236.
  • Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man). (n.d.). Retrieved from https://www.omim.org/
  • Clarkson TW, et al. (1977). Calcifying tumors of the skin (pilomatrixoma) with interpretative immunohistochemistry for intermediate filament proteins. Archives of dermatology, 113(8), 1035–1038.
  • OMIM. (n.d.). PILMATRICOMA. Retrieved from https://www.omim.org/entry/132600
  • Pilomatricoma. (n.d.). Retrieved from https://rarediseases.org/rare-diseases/pilomatricoma/
  • Pilomatricoma. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/pilomatricoma
  • Pilomatricoma. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0024621/
  • Pilomatricoma. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/?term=pilomatricoma
  • Pilomatricoma, Familial. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/medgen/343875
  • Registry and clinical trials.gov. (n.d.). Retrieved from http://www.clinicaltrialsgov/