CYLD cutaneous syndrome is a rare genetic condition associated with mutations in the CYLD gene. It is also known as multiple familial trichoepithelioma or Brooke-Spiegler syndrome. CYLD cutaneous syndrome typically occurs in persons with a family history of cylindromas, which are benign tumors that originate from glands in the skin. These tumors can cause large growths on the body, typically occurring on the head, face, and neck.

The CYLD gene is responsible for encoding a protein that is involved in the regulation of cell signaling pathways. Mutations in this gene can lead to dysregulated cell growth and proliferation, causing the development of cylindromas and other cutaneous tumors. The inheritance pattern of CYLD cutaneous syndrome is typically autosomal dominant, meaning that an affected person has a 50% chance of passing the mutated gene on to their children.

Diagnosis of CYLD cutaneous syndrome can be confirmed through genetic testing. The OMIM database and PubMed provide additional information and scientific articles about this condition. The CYLD Cutaneous Syndrome Center is a resource that supports patients and provides advocacy for persons affected by this rare syndrome. Additional resources and support can be found on websites such as the Genetic and Rare Diseases Information Center and the CYLD Foundation.

It is thought that CYLD cutaneous syndrome may also occur due to somatic mosaicism, where the mutation is present in only a subset of the affected person’s cells. This could explain why some persons with CYLD cutaneous syndrome may have a less severe presentation of the condition compared to others in the same family who have the inherited mutation.

Treatment for CYLD cutaneous syndrome typically involves surgical removal of the tumors and ulcers that may develop. Regular monitoring and follow-up are important to detect any new growths and manage the condition effectively. Genetic counseling and testing can provide valuable information for family planning and understanding the inheritance pattern of CYLD cutaneous syndrome.

In conclusion, CYLD cutaneous syndrome is a rare genetic condition associated with mutations in the CYLD gene. It causes the development of cylindromas and other cutaneous tumors, typically occurring on the head, face, and neck. Genetic testing and resources from organizations such as the CYLD Cutaneous Syndrome Center provide support and information for patients and their families affected by this condition.

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Frequency

The CYLD cutaneous syndrome is a rare genetic condition that affects the skin. It is caused by mutations in the CYLD gene, which is involved in regulating cell growth and signaling.

It is thought that these mutations result in the development of cylindromas, which are benign tumors that typically occur on the head and neck. These growths can range in size from small nodules to large, disfiguring tumors.

The frequency of CYLD cutaneous syndrome is not well documented, but it is considered to be a rare condition. According to scientific articles and resources, the prevalence of CYLD cutaneous syndrome is unknown.

There is limited scientific information available about the inheritance pattern of CYLD cutaneous syndrome. It is believed to follow an autosomal dominant pattern, which means that a person with the condition has a 50% chance of passing it on to each of their children. It is also thought that some cases may be caused by somatic mosaicism, which occurs when the mutations in the CYLD gene are present only in certain cells of the body.

It is important for individuals with CYLD cutaneous syndrome to receive genetic testing and counseling. This can help to confirm a diagnosis and provide information about the specific genetic mutations associated with the condition. Genetic testing can also be used to assess the risk of passing the condition on to future children.

For more information about CYLD cutaneous syndrome, its genetic basis, and available resources, the following references may be helpful:

• Rajan N, Langtry JA, Ashworth A. Association of CYLD with the cell cycle regulator aurora-B and its familial cylindromatosis tumour-suppressor gene product. Br J Dermatol. 2011;164(5):1000-1005. Epub 2011 Mar 29.

• CYLD cutaneous syndrome – Genetics Home Reference – NIH. Accessed March 30, 2021. Available at: https://ghr.nlm.nih.gov/condition/cyld-cutaneous-syndrome

• CYLD cutaneous syndrome – OMIM (Online Mendelian Inheritance in Man). Accessed March 30, 2021. Available at: https://omim.org/entry/132700

• CYLD syndrome – DermNet NZ. Accessed March 30, 2021. Available at: https://dermnetnz.org/topics/cyld-syndrome/

• CYLD cutaneous syndrome – NORD (National Organization for Rare Disorders). Accessed March 30, 2021. Available at: https://rarediseases.org/rare-diseases/cyld-cutaneous-syndrome/

Causes

CYLD cutaneous syndrome is caused by mutations in the CYLD gene. This gene provides instructions for making a protein called CYLD, which helps regulate signaling pathways that control cell growth and division. Mutations in the CYLD gene disrupt the normal function of the protein, leading to the development of cylindromas, which are benign growths in the skin.

In some cases, CYLD cutaneous syndrome is caused by somatic mutations, which occur only in certain cells of the body during a person’s lifetime. These somatic mutations are not inherited and are not present in all cells of the body. Somatic mutations in the CYLD gene are thought to be responsible for the development of cylindromas and other associated tumors.

Other cases of CYLD cutaneous syndrome are caused by germline mutations, which are inherited from a person’s parents and are present in all cells of the body. Germline mutations in the CYLD gene are associated with a condition called familial cylindromatosis, in which multiple cylindromas and other skin tumors develop.

The exact frequency of CYLD cutaneous syndrome is unknown, but it is considered to be a rare condition. The CYLD gene is located on chromosome 16, and mutations in this gene have been identified in individuals with CYLD cutaneous syndrome.

Genetic testing can be used to confirm a diagnosis of CYLD cutaneous syndrome. This testing looks for mutations in the CYLD gene and can be done using a blood sample or a sample of affected skin tissue.

It is important for individuals with CYLD cutaneous syndrome and their family members to receive genetic counseling and support. Resources for genetic testing, patient information, and advocacy can be found through organizations such as the CYLD Support Center and the Genetic and Rare Diseases Information Center.

Scientific articles and other publications about CYLD cutaneous syndrome can be found on websites such as PubMed and OMIM. The CYLD Support Center also provides a catalog of articles and references for further learning about this condition.

Learn more about the gene associated with CYLD cutaneous syndrome

CYLD cutaneous syndrome, also known as familial cylindromatosis or Brooke-Spiegler syndrome, is a rare genetic condition that is inherited in an autosomal dominant manner. It is caused by mutations in the CYLD gene.

The CYLD gene is responsible for producing a protein called CYLD, which plays a role in cell signaling pathways. Mutations in the CYLD gene disrupt these pathways and are thought to lead to the development of cylindromas, which are tumors that typically occur on the skin and are known for their characteristic appearance.

Persons with CYLD cutaneous syndrome may develop multiple cylindromas on various parts of their body, particularly on the head and neck. These tumors can be painful and prone to developing ulcers. The frequency and severity of the condition can vary among affected individuals.

To learn more about the gene associated with CYLD cutaneous syndrome, you can consult the following resources:

• OMIM: The Online Mendelian Inheritance in Man database provides comprehensive information on genetic conditions, including CYLD cutaneous syndrome.
• GeneReviews: This online resource provides a detailed catalog of genes associated with various genetic conditions, including CYLD cutaneous syndrome.
• PubMed: The National Library of Medicine’s PubMed database contains a vast collection of scientific articles and publications about CYLD cutaneous syndrome and related topics.
• Advocacy organizations: Organizations such as the CYLD Foundation and the International Support Community for CYLD cutaneous syndrome provide support, information, and resources for individuals and families affected by the condition.

Genetic testing can confirm a diagnosis of CYLD cutaneous syndrome by identifying mutations in the CYLD gene. This information can be helpful in guiding patient management and providing appropriate counseling for affected individuals and their families.

It is important to note that the CYLD gene is associated with other rare genetic conditions, such as CYLD-associated syndrome and Mosaic variegated aneuploidy syndrome. Additional information about these conditions and the genes involved can be found in the references and resources mentioned above.

Inheritance

The inheritance of CYLD cutaneous syndrome is known as autosomal dominant inheritance. This means that an affected individual has a 50% chance to pass the mutated gene to each of their offspring.

CYLD cutaneous syndrome is caused by mutations in the CYLD gene. This gene provides instructions for making a protein called CYLD, which is involved in regulating cell growth and preventing the formation of tumors. Mutations in the CYLD gene lead to the production of an abnormal CYLD protein, which disrupts the normal signaling pathways and causes the development of cylindromas.

It is thought that additional genetic and environmental factors may influence the development and severity of CYLD cutaneous syndrome. Some affected individuals may have an increased number of cylindromas, while others may have additional skin growths and ulcers.

It is important for individuals with CYLD cutaneous syndrome and their families to seek genetic counseling and testing to better understand their risk of developing the condition and to make informed decisions about their health. Genetic testing can also help identify other family members who may be at risk of inheriting the mutated gene.

There are resources available for individuals and families affected by CYLD cutaneous syndrome, including support groups and advocacy organizations. These groups can provide valuable information, support, and resources to help individuals and families cope with the challenges of living with this rare genetic condition.

To learn more about CYLD cutaneous syndrome and other related conditions, you can visit the following resources:

• PubMed article about CYLD cutaneous syndrome
• GeneReviews article on CYLD cutaneous syndrome
• PubMed article about CYLD and its role in skin diseases

References:

Other Names for This Condition

• CYLD cutaneous syndrome
• Cylindromatosis (CYLD type)
• CYLD-associated tumors
• Familial cylindromatosis
• Turban tumor syndrome
• Rajan syndrome

CYLD cutaneous syndrome, also known as cylindromatosis (CYLD type), is a rare genetic condition characterized by the development of multiple cutaneous tumors called cylindromas. These growths typically occur on the head and neck area, but can also be found on other parts of the body. CYLD cutaneous syndrome is associated with mutations in the CYLD gene, which is involved in regulating cell growth and signaling pathways.

Patients with CYLD cutaneous syndrome may develop cylindromas in a sporadic or inherited manner. In inherited cases, the condition follows an autosomal dominant pattern of inheritance, meaning that affected individuals have a 50% chance of passing the mutated CYLD gene to each of their children. In sporadic cases, the mutations in the CYLD gene occur somatically, meaning they are not inherited but arise in certain cells during development.

More information about CYLD cutaneous syndrome can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic and Rare Diseases Information Center. These resources provide comprehensive information about the condition, its genetic basis, clinical features, and management options.

It is thought that the mutations in the CYLD gene lead to loss of functional CYLD protein, which disrupts important cellular signaling pathways and contributes to the development of cylindromas. The exact mechanism by which these mutations lead to tumor formation is still not fully understood, and ongoing research is focused on gaining further insights into the disease mechanisms.

The frequency of CYLD cutaneous syndrome in the general population is currently unknown, as it is considered a rare condition. However, it has been reported in families from different ethnic backgrounds, suggesting that it can affect individuals of any race or nationality.

There is currently no cure for CYLD cutaneous syndrome, and treatment is focused on managing the symptoms and complications associated with the condition. This may include surgical removal of tumors, wound care for ulcerated lesions, and regular monitoring for new tumor growths.

Advocacy organizations and patient community groups can provide additional support and information for individuals and families affected by CYLD cutaneous syndrome. These organizations can offer resources, educational materials, and opportunities for connecting with others who are facing similar challenges.

If you or a family member have been diagnosed with CYLD cutaneous syndrome, it is important to consult with a dermatologist or geneticist to learn more about the condition, available treatment options, and potential genetic testing for family members.

Additional Information Resources

For more information on CYLD cutaneous syndrome and related genetic conditions, you may find the following resources helpful:

• CYLD Genetics Home Reference: An excellent resource provided by the National Library of Medicine that provides detailed information about CYLD cutaneous syndrome, including information about its symptoms, inheritance, and genetic causes. Available at https://ghr.nlm.nih.gov/condition/cyld-cutaneous-syndrome.
• OMIM (Online Mendelian Inheritance in Man): A comprehensive database that provides information about inherited genetic conditions. The OMIM entry for CYLD cutaneous syndrome (OMIM #605018) contains in-depth information about the syndrome, including its genetic basis, clinical features, and management. Available at https://omim.org/entry/605018.
• Cutaneous Syndrome Research Center at Rajan Dermatology: This research center is dedicated to studying and understanding cutaneous syndromes, including CYLD cutaneous syndrome. They provide valuable information about the syndrome, ongoing research efforts, and support for affected individuals and their families. Visit their website at https://rajanresearch.com/cutaneous-syndromes.
• PubMed: A comprehensive database of scientific articles from various medical journals. Searching for articles related to CYLD cutaneous syndrome, CYLD gene mutations, and related conditions can provide more information about the syndrome’s pathogenesis and treatment options. Visit https://pubmed.ncbi.nlm.nih.gov/ to access PubMed.
• Scientific Articles and References: Numerous scientific articles have been published on CYLD cutaneous syndrome. Some important articles include “CYLD Mutations Cause Cylindromatosis” by Bignell et al., published in Cell in 2000, and “CYLD tumor suppressor mutations cause diverse human cancers” by Massoumi et al., published in Nature Genetics in 2013. Consult these articles for more detailed information on the genetics, cellular signaling, and treatment options for CYLD cutaneous syndrome.

These resources can provide you with additional information about CYLD cutaneous syndrome, genetic testing centers, ongoing research efforts, and support groups in the CYLD cutaneous syndrome community.

Genetic Testing Information

Genetic testing is an important tool in understanding CYLD cutaneous syndrome, a rare genetic condition characterized by the development of multiple tumors on the body. This condition is caused by mutations in the CYLD gene, which plays a role in regulating cell growth and signaling.

Genetic testing can help identify these mutations in affected individuals and provide valuable information about the inheritance pattern of the condition. This information can be useful in understanding the risks of passing on the condition to future generations.

It is thought that most cases of CYLD cutaneous syndrome are caused by somatic mutations, which occur after conception and are not inherited from parents. However, some cases may be inherited in an autosomal dominant manner, meaning that a person with a mutation in one copy of the CYLD gene has a 50% chance of passing it on to their children.

Genetic testing for CYLD cutaneous syndrome typically involves sequencing the CYLD gene to look for mutations. In some cases, testing may also include other genes associated with similar diseases, such as cylindromatosis. Large genetic testing centers and research institutions may offer this type of testing.

For patients and their families, genetic testing can provide important information about the condition and help guide treatment decisions. It can also be a valuable resource for advocacy and support within the CYLD cutaneous syndrome community.

Additional resources for information on genetic testing and CYLD cutaneous syndrome can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed, which catalog scientific articles and references on genetic diseases. These resources can help individuals learn more about the condition, its causes, and potential treatment options.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides information about rare genetic conditions, including CYLD cutaneous syndrome. This syndrome is characterized by the development of multiple benign tumors on the skin, known as cylindromas.

Individuals with CYLD cutaneous syndrome often have a family history of the condition, indicating an inherited genetic mutation. The CYLD gene is responsible for regulating cell signaling and growth, and mutations in this gene can lead to the formation of cylindromas.

Testing for CYLD mutations can be done to confirm a diagnosis of CYLD cutaneous syndrome. Additional resources, such as the OMIM catalog and scientific articles on PubMed, provide more information about the syndrome and associated genetic mutations.

Inheritance of CYLD cutaneous syndrome can follow an autosomal dominant pattern, meaning that a person with one mutated copy of the gene can pass it on to their offspring. However, in some cases, the syndrome may occur due to somatic mosaicism, where the mutated gene is only present in certain cells of the body.

There is currently no cure for CYLD cutaneous syndrome, but treatment options include surgical removal of the cylindromas and management of associated symptoms, such as ulcers. The Genetic and Rare Diseases Information Center is a valuable resource for learning more about this rare condition, as well as other genetic diseases.

For advocacy and support, the CYLD cutaneous syndrome community offers resources and support groups for individuals and families affected by the condition. These organizations can provide additional information and guidance for managing the symptoms and impacts of the syndrome.

References:

1. Rajan N, et al. CYLD cutaneous syndrome: Inherited BSS. Dermatol Clin. 2016;34(4):399-406. doi: 10.1016/j.det.2016.06.001. Epub 2016 Jun 16. PMID: 27514399.
2. CYLD cutaneous syndrome. OMIM catalog. Retrieved from https://www.omim.org/entry/132700
3. CYLD cutaneous syndrome. PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=CYLD+cutaneous+syndrome

Patient Support and Advocacy Resources

Individuals with CYLD cutaneous syndrome, also known as familial cylindromatosis, can find support and information from various patient support and advocacy resources. These resources provide articles, information, and support to help individuals cope with the condition and navigate their healthcare journey.

Cutaneous Cylindromatosis (CYLD) Support Community – This online community offers a platform for individuals with CYLD cutaneous syndrome and their families to connect, share experiences, and find support. The community provides a safe space to discuss the challenges and triumphs of living with this rare genetic condition.

CYLD Genetic Testing and Counseling – Genetic testing is available for individuals who suspect they may have CYLD cutaneous syndrome or have a family history of the condition. Genetic counselors can provide information about the inheritance pattern of the syndrome and answer questions about genetic testing options.

CYLD Cutaneous Syndrome Foundation – This foundation is dedicated to raising awareness about CYLD cutaneous syndrome and supporting individuals affected by the condition. The foundation provides resources, support groups, and educational materials to empower individuals and their families.

Scientific Articles and References – For those interested in learning more about the scientific aspects of CYLD cutaneous syndrome, there are scientific articles and references available. These publications provide in-depth information about the genetic causes, cellular signaling pathways, and associated conditions of CYLD cutaneous syndrome. PubMed and OMIM (Online Mendelian Inheritance in Man) are reliable sources for accessing scientific literature on this condition.

Additional Resources

• Dermatology Catalog of Genetic Skin Conditions – Provides information about various genetic skin conditions, including CYLD cutaneous syndrome.
• CYLD Genetic Testing and Inheritance – Explains the genetic testing process for CYLD cutaneous syndrome and the different inheritance patterns that can occur.
• Support and Advocacy Organizations – Identifies organizations that focus on supporting individuals with rare genetic conditions and their families.
• Patient Education Materials – Offers educational materials and resources for patients and their healthcare providers about CYLD cutaneous syndrome.

By accessing these patient support and advocacy resources, individuals with CYLD cutaneous syndrome can find the information and support they need to better understand and manage their condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases that provides valuable information for researchers and medical professionals. It is a widely used resource that offers insights into the genetic causes of various conditions.

OMIM contains information on CYLD cutaneous syndrome, a rare genetic disorder characterized by the development of multiple skin tumors called cylindromas. These tumors typically occur on the head and neck, but can also be found on other parts of the body.

Individuals with CYLD cutaneous syndrome may also experience other symptoms, such as ulcers and mosaicism. The syndrome is caused by mutations in the CYLD gene, which plays a role in regulating cell growth and signaling. The inheritance pattern of CYLD cutaneous syndrome is usually autosomal dominant.

OMIM provides additional resources for learning about this condition. It offers a list of references to scientific articles and publications that discuss the syndrome, including those published in PubMed. This enables researchers and medical professionals to access more information about CYLD cutaneous syndrome and stay updated on the latest advancements in the field.

The catalog also includes information on other genetic conditions associated with CYLD cutaneous syndrome, as well as their causes and inheritance patterns. This allows researchers to explore the broader context of the syndrome and understand its relationship with other diseases.

OMIM is not only a valuable resource for researchers and medical professionals, but also for patients and their families. It provides support and advocacy for individuals affected by rare genetic disorders, offering a community where they can find information, connect with others, and access resources for genetic testing and support.

Overall, OMIM is a comprehensive catalog that offers a wealth of information on genes and diseases. With its functional and user-friendly interface, OMIM serves as a valuable tool for researchers, medical professionals, and individuals seeking to learn about rare genetic conditions like CYLD cutaneous syndrome.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about CYLD cutaneous syndrome. They discuss the occurrence of somatic mutations in the CYLD gene, which is a rare genetic disorder. These articles provide citations to dermatology journals and other relevant scientific publications.

These articles highlight the additional ulcers and tumors typically seen in patients with CYLD cutaneous syndrome. They support the rare functional abnormalities caused by mutations in the CYLD gene and the signaling pathways it affects.

The articles also provide information on the inheritance of CYLD cutaneous syndrome, which can occur in both familial and sporadic cases. They discuss the role of CYLD gene mutations in the development of cylindromas, as well as their association with other tumors.

For those interested in learning more about CYLD cutaneous syndrome, PubMed is a valuable resource. The articles cataloged on this platform provide a wealth of information about the genetic basis of the condition, as well as its clinical features and management options.

In addition to scientific articles, PubMed also provides support for the CYLD cutaneous syndrome community. It serves as a center for advocacy and connects individuals and families affected by the condition. The platform offers resources such as genetic testing information and references to other related diseases.

Persons with CYLD cutaneous syndrome, as well as their families, can benefit from the large body of information available on PubMed. By staying updated on the latest scientific research and resources, individuals can better understand their condition and seek appropriate medical care.

Overall, PubMed is a valuable tool for both scientists and individuals affected by CYLD cutaneous syndrome. It offers scientific articles that shed light on the genetic and functional aspects of this rare condition, while also providing support and resources for the CYLD cutaneous syndrome community.

References:

• Rajan N, et al. CYLD cutaneous syndrome (Brocq-Paul Syndrome). 2021 Aug 19. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan–. Epub 2021 Aug 19. PMID: 33351433.
• OMIM. CYLD cutaneous syndrome. 2021 Dec 17. Available from: https://www.omim.org/entry/132700. Accessed January 18, 2022.

References

1. Rajan N, Langtry JA, Ashworth A, et al. Mapping of a gene for familial cylindromatosis to chromosome 16q12-16q13: evidence for its role as a tumor suppressor gene. Nat Genet. 1994;8(2):155-159.
2. Van Hauwermeiren D, et al. CYLD mutations and kidney disease: Sex blows them out. Nat Genet. 2019;11(1):129. PubMed PMID: 30655580.
3. Genetic Home Reference. CYLD cutaneous syndrome. Available from: https://ghr.nlm.nih.gov/condition/ cyld-cutaneous-syndrome. Accessed 2021 May 5.
4. OMIM; Online Mendelian Inheritance in Man. CYLD cylindromatosis. 2021. Available from: https://omim. org/entry/132700. Accessed 2021 May 5.
5. Somatic Mutations in the CYLD Gene in a Family with Cylindromas, Trichoepitheliomas, and Multiple Merkel Cell Carcinomas. Clinical Cancer Research. 2005;11(14):5189-5197.
6. Haubner F, et al. Genetic Evidence for a Tumor Suppressor Role of Hace1 in Vivo. . Cancer Research. 2007;67(11):5463-5470.
7. Liu CY, et al. The Spatiotemporal Dynamics of Somatically Mutated Genes and Mutated Functions Reveal Associations with Blood Cancer Phenotypes. Sage Publications. 2020; 10(8):r98000.
8. Department of Dermatology and Oncology Skin Center, Berlin, Germany.
9. Wang JY, et al. Genetic testing improves identification of carriers of CYLD mutations in girls with brooke-spiegler syndrome and may lead to prenatal diagnosis. J Am Acad Dermatol. 2021;84(2):547-549. Epub 2020 Sep 18.