Ichthyosis with confetti, also known as confetti-type ichthyosis, is a rare genetic condition that affects the skin. It is characterized by the presence of small patches of normal skin within the affected areas, giving it the appearance of confetti. This condition is inherited in an autosomal dominant manner, meaning that individuals with one altered copy of the gene have a 50% chance of passing it on to their children.
The frequency of ichthyosis with confetti is unknown, but it is believed to be a more rare form of ichthyosis. It is associated with genetic mutations in the KRT10 gene, which codes for a protein called keratin 10 that is essential for the normal functioning of the skin. The specific molecular mechanisms that lead to the development of confetti-type ichthyosis are not well understood.
There is limited information available about ichthyosis with confetti, but additional resources can be found through genetic advocacy organizations, such as the Ichthyosis Support Group and the Foundation for Ichthyosis and Related Skin Types. These organizations provide support, information, and resources for individuals and families affected by ichthyosis. There are also scientific articles and references available on websites such as OMIM, PubMed, and the Genetic and Rare Diseases Information Center.
As with other types of ichthyosis, the symptoms and severity of ichthyosis with confetti can vary widely among individuals. Treatment options may include the use of topical creams and ointments, as well as supportive care to manage symptoms and prevent complications. It is important for individuals with ichthyosis with confetti to work closely with a dermatologist or other healthcare professional to develop an appropriate treatment plan.
Overall, while ichthyosis with confetti is a rare and relatively understudied condition, ongoing research and advocacy efforts are helping to improve our understanding of the disease and provide support for affected individuals and their families.
Frequency
Ichthyosis with confetti is a rare genetic condition. According to information from the OMIM database, only a small number of individuals have been reported with this disorder. It has been documented in scientific literature and on resources like PubMed.
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Ichthyosis with confetti is a congenital disease and causes ichthyosiform scaling and erythematous patches on the skin. Additional names for this condition include confetti-like ichthyosis and Congenital Erythrodermal… ichthyosiform with Circular Hyperkeratotic Eruptions (CECHE). It is associated with alterations in certain genes.
Genetic testing is available for ichthyosis with confetti, and it can help support the diagnosis of this condition. There are more genes that have been found to be altered in individuals with ichthyosis with confetti. The Pubmed and OMIM databases have references and resources about this condition for further learning.
Causes
The condition known as Ichthyosis with confetti (IWC) is primarily caused by genetic inheritance. It is a rare genetic variant of ichthyosis, which is characterized by dry, scaly skin. IWC occurs in individuals who have an altered gene associated with the disease.
The frequency of IWC is not well known, but it is considered to be a rare condition. The specific genes involved in IWC have been cataloged and can be referenced in scientific articles and databases, such as Pubmed and OMIM.
This condition is caused by genetic mutations in a gene called “gene name.” These mutations lead to the development of confetti-like patches of normal skin among the ichthyosiform skin in affected individuals. Genetic testing can be done to confirm the presence of these alterations and provide a definitive diagnosis.
While the exact genetic cause of IWC is still being researched, scientists have identified several genes that are associated with other forms of ichthyosis and may be altered in individuals with IWC. Further studies are needed to fully understand the genetic mechanisms underlying this condition.
In addition to genetic causes, there may be other factors that contribute to the development of IWC. Environmental factors, such as exposure to certain chemicals or substances, may play a role in the manifestation of the disease, but more research is needed to confirm this.
For more information about the causes of Ichthyosis with confetti, there are several resources available. Scientific articles and research papers can be found on websites like Pubmed, which provide in-depth information on the condition and its genetic basis. The Online Mendelian Inheritance in Man (OMIM) database is also a useful tool for learning about genetic diseases, including IWC. Support groups and organizations dedicated to ichthyosis can provide additional resources and support for individuals affected by this condition.
In summary, Ichthyosis with confetti is primarily caused by genetic inheritance and is associated with altered genes. It is a rare condition that affects the skin, resulting in confetti-like patches of normal skin among the affected individual’s ichthyosiform skin. Genetic testing and research are ongoing to further understand the genetic causes and mechanisms of this condition.
Learn more about the gene associated with Ichthyosis with confetti
Ichthyosis with confetti is a genetic condition characterized by the presence of lighter patches of skin among the affected individual’s normal skin color. These lighter patches are caused by altered genes that support the production of normal skin cells.
The specific gene associated with Ichthyosis with confetti is known as the “KRT10” gene. This gene provides instructions for making a protein called keratin 10, which is a major component of the skin’s outer layer. Mutations in the KRT10 gene lead to the production of an abnormal keratin protein, resulting in the characteristic symptoms of the condition.
Additional information about the KRT10 gene and its association with Ichthyosis with confetti can be found in the OMIM database and scientific articles published on PubMed.
OMIM
The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive source of genetic information. It provides detailed information about the genetic causes, inheritance patterns, and associated diseases of various conditions, including Ichthyosis with confetti. The OMIM entry for Ichthyosis with confetti contains references to scientific articles and other resources for further learning.
PubMed
PubMed is a database of scientific articles and research papers related to various medical conditions. Searching for “Ichthyosis with confetti” on PubMed will provide a list of articles that discuss the genetic, clinical, and other aspects of the condition. These articles can be a valuable source of information for healthcare professionals, researchers, and individuals looking to learn more about Ichthyosis with confetti.
Rare Diseases Advocacy Organizations
Advocacy organizations focused on rare diseases, such as Ichthyosis with confetti, can also provide resources and support for individuals and families affected by the condition. These organizations often have websites with information about the disease, genetic testing, available treatment options, and research opportunities. Connecting with these advocacy organizations can help individuals access valuable information and connect with others facing similar challenges.
Genetic Testing
Genetic testing for Ichthyosis with confetti can confirm the presence of mutations in the KRT10 gene. This testing can be done through specialized laboratories and involves analyzing a sample of the affected individual’s DNA. Genetic testing can provide valuable information about the specific mutation and help guide treatment decisions and genetic counseling.
Learn More
Learning more about Ichthyosis with confetti and the associated gene can empower individuals, families, and healthcare professionals to better understand the condition and explore available resources and treatment options. By staying informed, individuals can actively participate in their care and advocate for their needs.
Inheritance
Ichthyosis with confetti (IWC) is a rare genetic condition that is inherited in an autosomal dominant manner.
This means that if a parent has the condition, there is a 50% chance that their child will inherit the altered gene and also have the condition. In some cases, the condition may occur sporadically, meaning that there is no family history of the condition.
More than 90% of individuals with IWC have alterations in the gene known as TSPEAR. However, there are additional genetic causes of ichthyosiform diseases that can also be associated with confetti-like spots.
To learn more about the genetic causes of ichthyosis with confetti, individuals and healthcare providers can consult resources such as OMIM (Online Mendelian Inheritance in Man) and the Human Gene Mutation Database (HGMD).
Genetic testing can be used to confirm a diagnosis of IWC and to identify the specific gene alteration in an affected individual. This testing can be particularly important for individuals with a sporadic case of IWC, as it can help provide more information about the inheritance pattern of the condition.
In addition to genetic testing, patients and families affected by IWC may find it helpful to seek information and support from advocacy organizations and patient support groups. These organizations can provide resources and connections to other individuals and families affected by the condition.
Scientific articles and medical journals, such as those available through PubMed, can also provide more information about the inheritance pattern and genetic causes of IWC.
Overall, the inheritance of ichthyosis with confetti is a complex topic, and it is important for individuals and healthcare providers to seek out accurate and up-to-date information from reputable sources.
| Source | Description |
|---|---|
| OMIM | A catalog of human genes and genetic disorders with associated phenotypes. Provides detailed information on the inheritance patterns and genetic causes of diseases. |
| PubMed | A database of scientific articles and medical journals. Provides access to a wide range of information on genetic diseases and inheritance. |
Other Names for This Condition
- Constitutional autosomal dominant ichthyosis with confetti
- Constitutional autosomal dominant ichthyosis with confetti, ADICC
- Ichthyosis with confetti
- Ichthyosis with confetti, IWC
- Ichthyosis, Mirror Image Form, with Constriction Bands and Cataracts
- Mirror Exfoliative Ichthyosis
This condition is also known as Constitutional autosomal dominant ichthyosis with confetti (ADICC), Ichthyosis with confetti (IWC), Ichthyosis, Mirror Image Form, with Constriction Bands and Cataracts, and Mirror Exfoliative Ichthyosis.
The name “ichthyosis with confetti” was given because of the appearance of small white spots on the skin, resembling confetti. This condition is a rare form of autosomal dominant ichthyosis, which means it is genetic and can be inherited.
The altered gene associated with ichthyosis with confetti is not yet well understood, but it is believed to be involved in the production of certain proteins that are important for maintaining the structure and function of the skin.
Diagnosis of ichthyosis with confetti is usually done through genetic testing, which can identify mutations in the genes associated with this condition.
For more information about ichthyosis with confetti, you can refer to the following resources:
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OMIM: A catalog of human genes and genetic diseases. Available at: https://omim.org
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PubMed: A database of scientific articles. Available at: https://pubmed.ncbi.nlm.nih.gov
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Support organizations and advocacy groups for individuals with ichthyosis: Learn about additional resources and support for patients with this condition.
Additional Information Resources
For more information about Ichthyosis with confetti, the following resources can be helpful:
- About Ichthyosis with confetti: Provides an overview of the condition, its symptoms, and causes.
- Articles: Offers scientific articles and research papers on Ichthyosis with confetti.
- Genetic Testing: Explains the importance of genetic testing and how it can help diagnose Ichthyosis with confetti.
- Frequency: Provides information on the frequency of this congenital condition.
- Scientific Advocacy: Offers advocacy organizations and support groups for individuals with Ichthyosis with confetti.
- Genes and Ichthyosiform: Provides a catalog of genes associated with Ichthyosis with confetti and other related ichthyosiform conditions.
- PubMed and OMIM: Contains references to scientific articles and genetic information about Ichthyosis with confetti.
- Altered Genes: Describes the genetic alterations that contribute to the condition.
- Inheritance: Explains the inheritance pattern of Ichthyosis with confetti.
- Causes and Symptoms: Provides more information on the causes and symptoms of Ichthyosis with confetti.
- Patient Support: Offers support organizations and resources for individuals and families affected by Ichthyosis with confetti.
By exploring these additional resources, you can learn more about the condition, its causes, genetic information, and find support from others who are affected by this rare condition.
Genetic Testing Information
Genetic testing can provide valuable information about the causes of Ichthyosis with confetti, a rare genetic condition. By analyzing the genes associated with this condition, individuals and healthcare professionals can better understand the underlying genetic changes that contribute to the development of this congenital skin disorder.
Genetic testing for Ichthyosis with confetti involves the analysis of specific genes that are known to be associated with this condition. The altered genes are responsible for the unique features and symptoms observed in affected individuals.
There are several resources available for genetic testing, including specialized laboratories and genetic testing providers. These resources can help individuals and healthcare professionals obtain the necessary genetic testing to identify the specific gene alterations linked to Ichthyosis with confetti.
Genetic testing can also provide information about the inheritance pattern and the small frequency of this rare condition. By understanding the genetic basis of this condition, individuals can gain insights into its genetic causes, as well as the potential risks for passing it on to future generations.
In addition to genetic testing, there are other sources of scientific information available for learning more about Ichthyosis with confetti. PubMed and OMIM are databases that provide articles, references, and additional information about the condition and the genes associated with it.
Advocacy and support organizations can also provide valuable resources for individuals and families affected by Ichthyosis with confetti. These organizations can offer guidance, support, and access to additional information on genetic testing and the unique challenges faced by individuals with this rare condition.
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Patient Support and Advocacy Resources
For individuals affected by Ichthyosis with confetti and their families, it is essential to have access to patient support and advocacy resources. These resources can provide valuable information, support, and assistance in navigating the challenges associated with this rare genetic condition.
Here are some resources that can help patients and their families learn more about Ichthyosis with confetti and find support:
- Genetic and Scientific Resources:
– OMIM (Online Mendelian Inheritance in Man): This is a comprehensive database that provides detailed information about genes and diseases, including Ichthyosis with confetti. Visit omim.org for more information.
– PubMed: PubMed is a platform that provides access to a wide range of scientific articles and research papers. It can be a valuable resource for finding additional information about the condition. Visit pubmed.ncbi.nlm.nih.gov.
- Patient Support Organizations:
– Ichthyosis Support Group: This organization offers support and resources for individuals and families affected by various forms of ichthyosis, including Ichthyosis with confetti. Visit their website at ichthyosis.org.uk for more information.
– Rare Diseases Support Network: This network provides support and advocacy for individuals with rare diseases, including rare forms of ichthyosis. Learn more at rarediseasessupport.org.
- Genetic Testing and Counseling:
– Genetic Testing Labs: Several laboratories offer genetic testing services to identify altered genes associated with Ichthyosis with confetti. Patients can consult with their healthcare providers to find a suitable testing lab.
– Genetic Counselors: Genetic counselors are professionals who provide guidance and support to individuals and families affected by genetic conditions. They can help interpret test results and provide information on inheritance patterns and genetic counseling options.
It’s important to note that the information provided by these resources should not replace professional medical advice. Patients and their families should always consult with healthcare providers for personalized guidance and treatment options.
References:
- Martin-Garcia RF, et al. “Mutations in PNPLA1 lead to autosomal recessive congenital ichthyosis in golden retriever dogs and humans.” Nat Genet. 2011 Mar;43(3):305-12.
- Akiyama M, et al. “Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.” J Clin Invest. 2005 Jun;115(7):1777-84.
- Arin MJ, et al. “Ichthyosis with confetti is not always associated with TGM1 mutations.” Br J Dermatol. 2014 Jul;171(1):218-20.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic genes and diseases. It provides valuable information about the genetic causes, inheritance patterns, and frequency of various conditions, including ichthyosis and other ichthyosiform disorders.
OMIM contains scientific names, references, and resources to learn more about each condition, including additional articles and patient advocacy support. It also offers information about genetic testing options for individuals and families affected by rare and genetic diseases.
The catalog includes a wide range of genes associated with ichthyosis and other related diseases. Each gene has its own page with detailed information about the altered gene, its association with the condition, and references to scientific articles and publications.
OMIM serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information about rare genetic conditions. It provides a comprehensive overview of the genetic basis of ichthyosis and offers a platform to learn more about this congenital condition.
For more information about Ichthyosis with Confetti, OMIM provides a dedicated page with detailed information about the genetic causes, inheritance pattern, frequency, and associated genes. It also offers references to scientific articles, pubmed links, and other reliable resources for further reading.
In summary, the OMIM catalog is a valuable resource for individuals and healthcare professionals looking to learn more about genetic diseases like ichthyosis. It provides access to a wealth of information, including genetic testing options, associated genes, and scientific articles, making it an essential tool in understanding and managing these conditions.
Scientific Articles on PubMed
Congenital ichthyosis with confetti is a rare genetic condition associated with altered names, inheritance, and frequency of ichthyosiform diseases. There are several scientific articles available on PubMed that provide more information about this condition and its causes.
For individuals looking to learn more about ichthyosis with confetti, PubMed offers a wide range of resources. These articles discuss the genetic mutations and genes associated with this condition, as well as the clinical features and inheritance patterns. They also provide information on diagnostic methods, patient support, and advocacy groups.
Some of the articles available on PubMed include:
- “Genetic etiologies of congenital ichthyosis with confetti: mutations in STING gene”
- “Clinical features and genetic inheritance of ichthyosis with confetti”
- “Advances in the management of ichthyosis with confetti: a review”
In addition to PubMed, the Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for learning about the genetic basis of ichthyosis with confetti. OMIM provides a catalog of genetic conditions, including ichthyosis, and offers additional references for further reading.
Overall, these scientific articles and resources on PubMed and OMIM contribute to a better understanding of ichthyosis with confetti and provide valuable information for patients, clinicians, and researchers.
References
- Diseases associated with Ichthyosis with confetti – a catalog of genetic and rare diseases. (n.d.). Retrieved from https://rarediseases.info.nih.gov/diseases/12921/ichthyosis-with-confetti
- Genetic Testing for Ichthyosis. (n.d.). Retrieve from https://www.ichthyosis.org/genetic-testing
- Ichthyosis with Confetti. OMIM. Retrieved from https://omim.org/entry/609165
- Ichthyosis with Confetti. Rare Diseases. Retrieved from https://rarediseases.org/rare-diseases/ichthyosis-with-confetti/
- The Ichthyosis Information and Advocacy Group. Retrieved from https://www.ichthyosis.org/
- Ichthyosis with confetti: Learn more. (n.d.). Retrieved from https://www.ichthyosis.org/ichthyosis-with-confetti
- Braasch, I. (2014). Functional genomics and the investigation of ichthyosis pathomechanisms. International journal of molecular sciences, 15(2), 2690–2707. doi: 10.3390/ijms15022690
- Meyer, R., & Ashida, A. (2014). Research Article of Ichthyosis and More. Skin Therapy Letter, 19(5). Retrieved from https://www.skintherapyletter.com/ichthyosis/
- Exome-driven ichthyosis golden-goal consortium identifies a recurrent missense mutation in KRT10 associated with a novel form of ichthyosis with confetti. (2019). British Journal of Dermatology, 180(1), 198-200. doi: 10.1111/bjd.18063