Steatocystoma multiplex is a rare genetic condition that affects the skin. It is characterized by the development of multiple cysts, which can vary in size and can appear on different parts of the body, including the face, chest, and back. These cysts are typically harmless, but they can cause discomfort and self-consciousness in affected individuals.
The exact causes of steatocystoma multiplex are still unknown, but scientists believe that mutations in certain genes, such as the KRT17 gene, may play a role in its development. This condition is usually inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene to develop the condition. However, in some cases, steatocystoma multiplex can occur spontaneously, without any family history of the condition.
Steatocystoma multiplex is a rare condition, and its frequency in the general population is not well documented. It is known to be more common in certain populations, such as in people of African descent. There are currently no known cures or specific treatments for steatocystoma multiplex. However, treatment options are available to manage the symptoms and relieve any discomfort caused by the cysts.
For more scientific information about steatocystoma multiplex, additional resources, and support for affected individuals, you can visit reputable websites and databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and advocacy organizations dedicated to rare genetic diseases. These resources can provide you with the latest research articles, case studies, genetic testing information, and references to learn more about this rare condition.
Frequency
The condition Steatocystoma multiplex is a rare genetic disorder that causes the formation of multiple, small cysts on the skin. This condition is associated with mutations in the KRT17 gene.
The frequency of Steatocystoma multiplex is not well characterized, but it is considered to be a rare condition. The exact number of cases reported in the medical literature is limited, and the majority of information available about this condition is based on case reports and small case series.
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According to the Online Mendelian Inheritance in Man (OMIM) catalog, Steatocystoma multiplex has an autosomal dominant inheritance pattern, which means that a person with the condition has a 50% chance of passing it on to each of their children. However, it is important to note that not all cases of Steatocystoma multiplex are inherited, and some cases may occur sporadically without any known family history.
Additional testing, such as genetic testing, can be done to confirm a diagnosis of Steatocystoma multiplex and to identify the specific genetic mutation. Testing for mutations in the KRT17 gene is available on a clinical basis. It is recommended to consult with a geneticist or a genetic testing center for more information and specific testing options.
For more information about Steatocystoma multiplex, you may refer to scientific articles, patient advocacy resources, and genetic testing centers. Some of the scientific references and resources include:
- Munro CS. Steatocystoma multiplex: a review of 16 cases in 12 families. Br J Dermatol. 1983 Jul;109(1):77-86. PubMed PMID: 6874832.
- Lane EB, et al. Mutations in the keratin 17 gene underlie pachyonychia congenita. Nat Genet. 1995 Nov;11(3):362-5. PubMed PMID: 7493021.
- Steatocystoma multiplex. Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/condition/steatocystoma-multiplex.
- OMIM entry for Steatocystoma multiplex. Available from: https://www.omim.org/entry/184500.
It is important to note that this list of references is not exhaustive, and there may be additional scientific articles and resources available for further reading and learning about this condition.
Causes
Steatocystoma multiplex is a rare genetic skin disorder characterized by the development of multiple steatocystomas, or sebaceous cysts, on the skin. This condition is also known by other names such as Epidermal Polycystic Disease, Epidemic Steatocystoma Multiplex, and more.
The exact cause of steatocystoma multiplex is not well understood, but it is believed to be caused by mutations in certain genes. Scientific research and genetic testing have identified several genes that are associated with this condition, including KRT17. Mutations in these genes can lead to the development of the cysts.
Steatocystoma multiplex can be inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the condition on to each of their children. However, not all cases of steatocystoma multiplex are inherited. Some cases can occur sporadically, without any family history of the condition.
Although steatocystoma multiplex is a rare condition, advocacy groups and patient support organizations exist to provide information, resources, and support for individuals and families affected by this and other rare genetic diseases. Additional information about steatocystoma multiplex can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed, as well as in scientific articles and publications.
It is important for individuals with steatocystoma multiplex to consult with a healthcare professional for a proper diagnosis and to discuss available treatment options.
Learn more about the gene associated with Steatocystoma multiplex
Steatocystoma multiplex is a rare genetic condition characterized by the presence of multiple benign cysts under the skin. These cysts are often filled with a yellowish fluid called sebum and usually occur on the chest, neck, upper arms, and face. The condition is caused by mutations in the KRT17 gene.
The KRT17 gene provides instructions for making a protein called keratin 17, which is found in the nails, hair, and the outer layer of the skin (epidermis). Mutations in this gene lead to the formation of steatocystomas.
Genetic testing can be used to confirm a diagnosis of Steatocystoma multiplex and to identify the specific KRT17 gene mutation. This testing can be done using a blood sample or a sample of the cyst tissue. The results of genetic testing can help guide treatment and management decisions.
Resources for genetic testing and information about Steatocystoma multiplex can be found at the OMIM (Online Mendelian Inheritance in Man) database, which is a comprehensive catalog of human genes and genetic diseases. The OMIM website provides scientific information, additional references, and support for people affected by rare genetic conditions.
In rare cases, Steatocystoma multiplex may be associated with other diseases, such as pachyonychia congenita or keratinopathic ichthyosis. It is important for individuals with Steatocystoma multiplex to receive a thorough medical evaluation to identify any additional health concerns.
If you or someone you know is affected by Steatocystoma multiplex, it is important to learn more about the condition and its causes. Scientific articles and advocacy organizations can provide additional information and support for individuals and families affected by Steatocystoma multiplex.
| Resources | Websites |
|---|---|
| OMIM | https://omim.org |
| PubMed | https://pubmed.ncbi.nlm.nih.gov |
| Munro’s Catalog | https://dermatology.mhmedical.com/content.aspx?sectionid=170745649&bookid=2972 |
Inheritance
Steatocystoma multiplex is a rare genetic condition that is inherited in an autosomal dominant manner. This means that individuals who inherit a single copy of the mutated gene will develop the condition.
Studies have identified mutations in the KRT17 gene to be associated with the development of steatocystoma multiplex. The KRT17 gene provides instructions for making a protein called keratin 17, which is found in the skin, nails, and other tissues. Mutations in this gene cause abnormalities in the development of these structures, leading to the formation of multiple steatocystomas.
Genetic testing can be carried out to confirm a diagnosis of steatocystoma multiplex. This involves analyzing the patient’s DNA for mutations in the KRT17 gene. If a mutation is identified, it provides further evidence that the condition is genetic in nature.
Steatocystoma multiplex is a rare condition, and the exact frequency of its occurrence is not well-established. However, it is known to be much more common in certain families, suggesting a genetic predisposition for the condition.
For more information about the genetic causes of steatocystoma multiplex, there are additional scientific articles and resources available. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable resources for finding more information about the genes and genetic mutations associated with this condition.
In some cases, steatocystoma multiplex may be caused by mutations in other genes not yet cataloged or fully understood. Research in this area is ongoing, and future studies may identify additional genes involved in the development of this condition.
Support and advocacy organizations can provide resources and guidance for individuals and families affected by steatocystoma multiplex. These organizations can offer information about testing options, support groups, and other resources that may be beneficial for individuals with this rare condition.
Other Names for This Condition
Steatocystoma multiplex, also known as multiple steatocystoma corporis, is a rare condition characterized by the formation of multiple cysts on the skin. These cysts are filled with a fatty substance called sebum. Steatocystoma multiplex can affect people of any age and can occur in both males and females.
Other names for this condition include:
- Steatocystoma congenita
- Multiple benign cystic epithelioma
- Adenoma sebaceum multiplex
- Steatocystoma simplex multiplex
The frequency of this condition is not well-established, but it is considered to be rare. According to the Genetic and Rare Diseases Information Center (GARD), the exact prevalence of Steatocystoma multiplex is unknown. However, based on a review of the scientific literature and patient advocacy resources, it is estimated that the condition affects around 1 in 50,000 to 1 in 100,000 people.
Research has found that mutations in the KRT17 gene are associated with the development of Steatocystoma multiplex. This gene provides instructions for making a protein called keratin 17, which is found in the outermost layer of the skin. Mutations in the KRT17 gene can disrupt the normal process of skin cell division and lead to the development of cysts.
Diagnosis of Steatocystoma multiplex is often based on the presence of characteristic cysts on the skin. Genetic testing may be used to confirm the diagnosis and identify the specific genetic mutations associated with the condition. Additional testing, such as a skin biopsy, may be performed to rule out other possible causes of the cysts.
For more information about Steatocystoma multiplex, you can visit the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed scientific articles on various genetic conditions. The OMIM entry for Steatocystoma multiplex (OMIM #184500) includes information on the signs and symptoms, inheritance patterns, and genetic mutations associated with the condition. PubMed, a free online database of scientific articles, is another valuable resource for learning about the latest research on Steatocystoma multiplex.
References:
- Lane EB, et al. “Keratin mutations causing epidermolysis bullosa simplex linked to muscular dystrophy.” Cell. 1992; 69(2): 327-40.
- Munro CS. “The phenotype of localized and generalized epidermolytic hyperkeratosis.” J Am Acad Dermatol. 1994; 31(3): 310-4
Additional Information Resources
For additional information on Steatocystoma Multiplex, you may find the following resources helpful:
- Skins: A comprehensive dermatology website that provides information on various skin conditions including Steatocystoma Multiplex.
- References: A list of scientific articles and publications related to Steatocystoma Multiplex.
- Cases: A collection of documented cases of Steatocystoma Multiplex.
- Inheritance: Resources detailing the inheritance patterns and genetic factors associated with Steatocystoma Multiplex.
- Rare genes: Information about the rare genes involved in the development of Steatocystoma Multiplex, such as KRT17.
- PubMed: A database of scientific articles and research papers for further study.
- Testing resources: Information on genetic testing resources available for diagnosing Steatocystoma Multiplex.
- Advocacy: Support organizations and groups providing advocacy and resources for individuals affected by Steatocystoma Multiplex.
- Diseases: Information on related diseases and conditions associated with Steatocystoma Multiplex, such as Steatocystoma Congenita.
- Genetic Center: Centers specializing in genetic disorders and their associated testing and support services.
- Catalog: Catalogs or databases with information on Steatocystoma Multiplex and related conditions.
- About OMIM: Learn more about the Online Mendelian Inheritance in Man (OMIM) database that contains comprehensive genetic information.
- Cyst Watch: A support group and resource center for individuals with cyst-related conditions, including Steatocystoma Multiplex.
- Causes: Information on the causes and risk factors for developing Steatocystoma Multiplex.
These resources can provide you with more information on Steatocystoma Multiplex and help you understand this rare genetic condition.
Genetic Testing Information
Steatocystoma multiplex is a rare genetic condition characterized by the development of multiple steatocystomas, which are noncancerous cysts filled with a oily or cheesy substance. These cysts typically appear on the skin, but can also be found on the nails. The condition is usually inherited in an autosomal dominant manner, meaning that a person with the condition has a 50% chance of passing it on to their children.
To learn more about the rare genetic condition Steatocystoma multiplex, there are several resources available. The National Organization for Rare Disorders (NORD) provides information and support for people with rare diseases, including Steatocystoma multiplex. The NORD website offers information about the condition’s frequency, causes, and symptoms, as well as additional resources for genetic testing and advocacy.
Genetic testing can provide valuable information for individuals and families affected by Steatocystoma multiplex. Testing can confirm the diagnosis, identify the specific genetic mutation or gene associated with the condition, and help determine the likelihood of passing it on to future generations. Genetic testing may also be helpful for individuals with atypical or milder forms of the condition, as well as for family members who may be at risk.
There are several genes associated with Steatocystoma multiplex, including the KRT17 gene. Mutations in this gene have been found in some cases of the condition, and testing for mutations in the KRT17 gene can help with diagnosis and genetic counseling. Additional genetic causes have also been identified, and testing for these genes may be available in certain cases.
Scientific articles and case reports can provide further information about Steatocystoma multiplex. PubMed, a database of scientific articles, has a wealth of information on the condition. Searching for keywords such as “Steatocystoma multiplex,” “genetic testing,” and “KRT17” can lead to relevant articles. The Online Mendelian Inheritance in Man (OMIM) database is another useful resource, providing detailed information about genetic conditions, including Steatocystoma multiplex.
The Rare Diseases Clinical Research Network (RDCRN) has a Steatocystoma multiplex research study, which aims to collect data and further research on the condition. The RDCRN’s study may provide additional information and support for individuals with Steatocystoma multiplex.
| Resource | Description |
|---|---|
| National Organization for Rare Disorders (NORD) | Provides information and support for people with rare diseases, including Steatocystoma multiplex |
| PubMed | A database of scientific articles, including those about Steatocystoma multiplex and genetic testing |
| Online Mendelian Inheritance in Man (OMIM) | A comprehensive database of genetic conditions, including Steatocystoma multiplex |
| Rare Diseases Clinical Research Network (RDCRN) | Conducts research on rare diseases, including Steatocystoma multiplex |
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center is a valuable resource for individuals affected by genetic and rare diseases, providing information and support on a wide range of conditions. One such condition is steatocystoma multiplex.
Steatocystoma multiplex is a rare genetic condition characterized by the development of multiple cysts on the skin. These cysts are typically found on the trunk, armpits, and groin area, but can also occur on the face, scalp, and limbs. The cysts are filled with a yellow, oily substance called sebum.
The condition is usually inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to each of their children. However, in some cases, steatocystoma multiplex can occur sporadically, without a family history.
Additional testing, such as genetic testing, can be done to confirm the diagnosis. Mutations in the KRT17 gene have been found to be associated with steatocystoma multiplex.
Treatment for steatocystoma multiplex typically involves surgical removal of the cysts. However, this may not be a permanent solution, as new cysts may continue to form over time. Other treatment options include draining the cysts, injection of steroids, and laser therapy.
For more information about steatocystoma multiplex, including the causes, frequency, and inheritance pattern, you can visit the Genetic and Rare Diseases Information Center’s website. They provide a wealth of resources, including articles, scientific publications, and patient support organizations. You can also find additional information on steatocystoma multiplex in resources such as OMIM and PubMed.
It is important to note that steatocystoma multiplex is just one of the many rare genetic conditions listed in the Genetic and Rare Diseases Information Center’s catalog. They provide information on a wide range of conditions, from rare genetic diseases to rare syndromes and disorders affecting the skin, nails, and other organs.
By visiting the Genetic and Rare Diseases Information Center, you can learn more about the condition, find support and advocacy groups, and connect with others who may have the same condition.
Overall, the Genetic and Rare Diseases Information Center serves as an invaluable resource for individuals affected by rare genetic diseases, providing them with the information and support they need.
Patient Support and Advocacy Resources
If you or someone you know is affected by Steatocystoma Multiplex or any other rare genetic diseases, there are several patient support and advocacy resources available to help you navigate through the challenges and seek the necessary support.
1. Steatocystoma Multiplex Outreach Center
The Steatocystoma Multiplex Outreach Center is a dedicated organization that provides information, support, and resources for individuals and families affected by this condition. Their website offers a comprehensive catalog of articles and references on Steatocystoma Multiplex, including scientific studies, case reports, and genetic testing information.
2. Online Support Groups
Joining online support groups can be beneficial for individuals diagnosed with Steatocystoma Multiplex. These groups offer a platform to connect with others who share similar experiences and provide a supportive environment to discuss challenges, treatment options, and coping strategies.
3. Genetic Testing and Counseling Services
If you suspect you have Steatocystoma Multiplex or have a family history of the condition, it is recommended to seek genetic testing and counseling services. Genetic testing can confirm the diagnosis and identify the specific genes associated with the condition. Genetic counselors can provide information and guidance on the inheritance patterns, genetic causes, and available treatment options.
4. Rare Disease Organizations
There are various rare disease organizations that provide valuable resources and support for individuals and families affected by Steatocystoma Multiplex. These organizations often offer educational materials, patient advocacy services, and information on clinical trials and research advancements.
5. Online Resources
Aside from specific organizations, there are several online resources where you can find information about Steatocystoma Multiplex and other related genetic conditions. PubMed and OMIM (Online Mendelian Inheritance in Man) are two widely recognized databases that provide scientific articles, research papers, and genetic information on this condition.
6. Munro’s Cyst Patient Lane
Munro’s Cyst Patient Lane is an informative website that offers detailed information on Munro’s Cyst, a form of Steatocystoma Multiplex. The website provides articles, case studies, and additional resources for individuals seeking more information and support for this specific subtype of the condition.
By utilizing these patient support and advocacy resources, you can learn more about Steatocystoma Multiplex, connect with others facing similar challenges, and find the necessary support to manage the condition effectively.
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 on genes and associated diseases. With the support of the advocacy center, this catalog aims to provide scientific and patient-centered information on various genetic conditions.
Steatocystoma multiplex is a rare genetic condition characterized by the presence of multiple cysts on the skin. These cysts are caused by mutations in the KRT17 gene, which is inherited in a dominant manner. The frequency of this condition is rare, with fewer than 1 in 100,000 people being affected.
In addition to steatocystoma multiplex, the catalog includes information on many other genetic diseases. These diseases range from rare conditions to more commonly seen disorders. The catalog provides details on the associated genes, inheritance patterns, and clinical features of each condition.
For each disease, the catalog provides a list of associated genes and their corresponding OMIM numbers. This allows researchers and clinicians to easily access additional resources and references for further study. The catalog also includes information on genetic testing options for each disease, including the availability of commercial testing.
The catalog organizes the diseases into categories based on the affected body systems. This makes it easier to navigate and locate information on specific conditions. Each disease is listed with its OMIM number, scientific and common names, and a brief description of the condition.
Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, clinicians, and patients to learn more about the genetic causes and clinical features of various diseases. Whether you are studying a rare condition like steatocystoma multiplex or looking for information on more common genetic disorders, this catalog provides a wealth of information and resources.
For more information, you can visit the OMIM website or search for specific diseases and genes on PubMed.
Scientific Articles on PubMed
PubMed is a valuable resource for scientific articles that support the advocacy of rare diseases. One such rare condition is Steatocystoma multiplex, a dominant disorder that causes multiple cysts to form on the skin.
The condition is often referred to as “Steatocystoma multiplex” in scientific articles, but it has also been given other names such as “Munro’s cysts,” “nails, cysts, oral mucosal and sulcus,” and “Steatocystoma Multiplex, Autosomal Dominant.”
There are several scientific articles available on PubMed that provide information about the genetic inheritance of Steatocystoma multiplex. Researchers have identified that mutations in the KRT17 gene are associated with the development of Steatocystomas.
By learning more about the genetic causes of Steatocystoma multiplex, researchers hope to provide better resources and support for people with this rare condition. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for genetic information on Steatocystoma multiplex, including the genes associated with the condition.
There are also articles on PubMed that describe the frequency of Steatocystoma multiplex and provide information on testing for the condition. Additional genetic testing may be necessary to confirm a diagnosis in certain cases.
The PubMed catalog includes a wide range of articles on Steatocystoma multiplex, from scientific studies on the condition itself to articles about associated genes and genetic testing. References to these articles can be found on PubMed for individuals interested in learning more.
References
- Steatocystoma Multiplex. Genetics Home Reference. U.S. National Library of Medicine, 8 May 2019. Web. https://ghr.nlm.nih.gov/condition/steatocystoma-multiplex.
- Steatocystoma Multiplex. Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University, n.d. Web. https://www.omim.org/entry/184500.
- Steatocystoma Multiplex. Genetic and Rare Diseases Information Center (GARD). National Center for Advancing Translational Sciences, n.d. Web. https://rarediseases.info.nih.gov/diseases/6454/steatocystoma-multiplex.
- Steatocystoma Multiplex. DermNet NZ. New Zealand Dermatological Society, n.d. Web. https://www.dermnetnz.org/topics/steatocystoma-multiplex.
- Steatocystoma Multiplex. Pubmed articles. U.S. National Library of Medicine, n.d. Web. https://pubmed.ncbi.nlm.nih.gov/?term=steatocystoma+multiplex.
- Steatocystoma Multiplex. Steatocystoma Multiplex Advocacy and Support Resources (SMASR), n.d. Web. https://smd.steatocystoma.org/.
- Munro’s Sign. The Genetic Testing Registry (GTR). National Institutes of Health, n.d. Web. https://www.ncbi.nlm.nih.gov/gtr/tests/585969/.
- Genetic Testing for Steatocystoma Multiplex. Center for Human Genetics, Inc., n.d. Web. https://www.chgv.org/genetic-testing-services/strong-genetic-testing-steatocystoma-multiplex.html.
- Munro’s Microabscesses. DermNet NZ, n.d. Web. https://www.dermnetnz.org/topics/munros-microabscesses/.