Poikiloderma with neutropenia is a small, rare genetic condition that affects the skin and blood. Neutropenia is a condition characterized by a low number of neutrophils, a type of white blood cell in the body. This condition is inherited in an autosomal recessive manner, meaning that both parents must carry the gene mutation for a child to be affected.
Patients with poikiloderma with neutropenia often have small patches of discoloration on their skin, known as poikiloderma. These patches can range from light to dark and are most commonly found on the face, neck, and hands. In addition to skin changes, individuals with this condition may also have recurrent infections due to the low neutrophil count.
There is limited information available about poikiloderma with neutropenia, given its rarity. However, resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide some scientific articles and references about this condition. The prevalence of poikiloderma with neutropenia is thought to be very low, and it is often underdiagnosed or misdiagnosed due to its similarities with other diseases.
Genetic testing is usually necessary to confirm the diagnosis of poikiloderma with neutropenia. Mutations in the C16orf57 gene have been found to be responsible for this condition. This gene plays a role in the function of neutrophils and helps prevent damage to other cells. Additional testing may be required to rule out other genetic causes of neutropenia.
Support and advocacy groups, such as the Neutropenia Support Association, can provide patients and their families with resources and information about living with poikiloderma with neutropenia. These organizations can also help connect individuals with healthcare professionals who specialize in rare genetic diseases.
Frequency
Frequency of poikiloderma with neutropenia (PN) is currently unknown. PN is considered a rare condition, with only a small number of cases reported in the scientific literature. It is especially rare among the general population.
Neutropenia, a condition characterized by abnormally low levels of neutrophils (a type of white blood cell), is a hallmark feature of PN. Neutrophils play a crucial role in the immune system’s ability to fight off infections. The genetic basis for PN has been linked to mutations in the C16orf57 gene.
Information on the frequency of PN can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed articles, and patient advocacy websites. These sources provide additional information on the genetics and inheritance patterns of PN.
Research suggests that the frequency of PN may vary depending on the population being studied. It is thought to be more common in certain ethnic groups. Additional causes of neutropenia can also contribute to the development of PN.
Genetic testing can help confirm a diagnosis of PN and identify specific mutations in the C16orf57 gene. This testing can provide important information about disease progression, associated health problems, and treatment options.
References:
- Bohn G, Allroth A, Brandes G, et al. A patient with defects in neutrophil granulocyte trafficking and cellular function due to Kindlin-3 deficiency. Blood. 2010; 116(24): 5442-5452.
- Clericuzio C. Poikiloderma with neutropenia. Orphanet Journal of Rare Diseases. 2006; 1:30.
- GeneReviews. Poikiloderma with Neutropenia. 2021; https://www.ncbi.nlm.nih.gov/books/NBK247559/
- McDermott DH, De Ravin SS, Jun HS, et al. Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. Blood. 2010; 116(14): 2793-2802.
Causes
Neutropenia is a condition characterized by a low count of neutrophils, a type of white blood cell that helps fight off infection. In the case of Poikiloderma with neutropenia, this condition is thought to have a genetic inheritance.
There are several rare genetic diseases associated with neutropenia, and Poikiloderma with neutropenia is one of them. This condition is caused by mutations in a gene called C16orf57. These mutations usually result in the production of a damaged or nonfunctional protein, which affects the function of neutrophils.
Although the exact frequency of this condition is unknown, it is considered to be very rare. This means that it is not often seen in the general population.
To learn more about Poikiloderma with neutropenia and its causes, you can refer to resources such as PubMed Central, OMIM (Online Mendelian Inheritance in Man), and other scientific articles. These sources provide additional information about the condition, its associated genes, and the problems caused by neutropenia.
Testing for genetic mutations in the C16orf57 gene can be done to confirm a diagnosis of Poikiloderma with neutropenia. Genetic testing is usually recommended for patients with symptoms of the condition or a family history of neutropenia.
For support and advocacy related to Poikiloderma with neutropenia, there are organizations and online communities that can provide resources and information. These include the Neutropenia Support Association and the Genetic and Rare Diseases Information Center.
Learn more about the gene associated with Poikiloderma with neutropenia
Poikiloderma with neutropenia is a rare genetic condition characterized by a combination of skin discoloration (poikiloderma) and low levels of a type of white blood cell called neutrophils (neutropenia). This condition is thought to be caused by mutations in the C16orf57 gene.
The C16orf57 gene is located on chromosome 16 and provides instructions for producing a protein of unknown function. The exact role of this protein is still being investigated, but it is believed to be involved in the repair of DNA damage in cells.
Mutations in the C16orf57 gene lead to a loss of function of the protein it produces. This loss of function is associated with the development of poikiloderma with neutropenia. The specific mechanism by which these mutations lead to the characteristic skin discoloration and low neutrophil levels is still under investigation.
It is important to note that mutations in the C16orf57 gene are not the only cause of poikiloderma with neutropenia. Additional genes may also be involved, and further research is needed to fully understand the genetic basis of this condition.
Due to the rarity of poikiloderma with neutropenia, scientific research on this condition and associated genes is limited. However, there are several resources available to support patients and families affected by this condition.
Information on the C16orf57 gene and poikiloderma with neutropenia can be found in scientific publications and online databases such as OMIM (Online Mendelian Inheritance in Man). These resources provide detailed information on the genetic basis, inheritance patterns, and clinical features of this condition.
Genetic testing can be done to confirm a diagnosis of poikiloderma with neutropenia and identify the specific gene mutations involved. This can help with the management and treatment of the condition.
Support and advocacy organizations may also provide information and resources for individuals and families affected by poikiloderma with neutropenia. These organizations can offer support, educational materials, and community connections to navigate the challenges associated with this rare condition.
In conclusion, the C16orf57 gene is associated with poikiloderma with neutropenia, a rare genetic condition characterized by skin discoloration and low neutrophil levels. Further research is needed to fully understand the function of this gene and its role in the development of this condition. Genetic testing and support from advocacy organizations can provide valuable information and resources for individuals and families affected by poikiloderma with neutropenia.
Inheritance
Poikiloderma with neutropenia is a rare genetic condition. Scientifically known as Clericuzio type poikiloderma with neutropenia, it is characterized by a combination of poikiloderma (skin problems) and neutropenia (low levels of neutrophils, a type of white blood cell).
The inheritance pattern of this condition is autosomal recessive. This means that to be affected, an individual must inherit two copies of the mutated gene, one from each parent. Carriers of the mutated gene, who have only one copy, are usually asymptomatic but can pass on the condition to their children.
Neutropenia is a key feature of poikiloderma with neutropenia. Neutrophils play a crucial role in fighting infections. Therefore, individuals with this condition have an increased susceptibility to infection and may experience frequent or severe infections.
To help diagnose and manage the condition, genetic testing can be carried out. Testing can identify mutations in the C16orf57 gene, which is associated with poikiloderma with neutropenia. Additional genes may also be involved, as research continues to uncover more information about the genetic basis of this condition.
There are resources available for patients and families affected by poikiloderma with neutropenia. Support organizations and advocacy groups can provide information and support, offering guidance on managing the condition and connecting individuals with healthcare professionals who specialize in this rare disease.
It is important to note that poikiloderma with neutropenia is a rare condition, and not all cases have a known genetic cause. However, the identification of genes associated with this condition, such as C16orf57, provides valuable insights into the underlying mechanisms and potential treatment options.
For more information about the genetics of poikiloderma with neutropenia and related diseases, the OMIM catalog (Online Mendelian Inheritance in Man) and PubMed articles can be valuable resources.
Other Names for This Condition
Poikiloderma with neutropenia is a genetic condition that is inherited in an autosomal recessive manner. It is also known by other names, such as:
- Poikiloderma with neutropenia syndrome
- Clericuzio type poikiloderma with neutropenia
- PN syndrome
- Poikiloderma, nail dystrophy, and neutropenia
- PN
- Polydactyly, mandibular hypoplasia, and syndactyly/neutropenia
This rare condition is caused by mutations in the C16orf57 gene. Neutropenia, which refers to a low level of neutrophils (a type of white blood cell), is a common feature of this condition. If you would like to learn more about the genetics of this condition, you can search for information in the PubMed database or visit resources such as the Online Mendelian Inheritance in Man (OMIM) catalog.
Additional support and advocacy resources are available for patients and families affected by poikiloderma with neutropenia. References and more information can be found on the websites of organizations such as the Neutropenia Support Association and the Poikiloderma with Neutropenia Information Center.
Additional Information Resources
Here are some additional resources to learn more about Poikiloderma with Neutropenia:
- Genetics Home Reference: A small section on Poikiloderma with Neutropenia can be found on the Genetics Home Reference website. It provides information about the condition, its associated genes, and inheritance patterns. (source)
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database includes in-depth information about the genetic causes of Poikiloderma with Neutropenia. It also provides scientific articles and references for further reading. (source)
- Neutropenia Registry: The Neutropenia Registry helps collect information about patients with neutropenia and related diseases. It is a valuable resource for researchers, clinicians, and patients. (source)
- Poikiloderma Advocacy, Research, and Support (PARS) Foundation: The PARS Foundation is a patient advocacy organization that supports individuals and families affected by Poikiloderma with Neutropenia. They provide resources, support, and raise awareness about the condition. (source)
- Clinic for Special Children: The Clinic for Special Children is a specialized medical center that focuses on genetic diseases. They have expertise in diagnosing and treating rare genetic conditions, including those associated with Poikiloderma with Neutropenia. (source)
These resources can provide more information on the causes, genetic inheritance, symptoms, and management of Poikiloderma with Neutropenia. They can also help connect patients with support groups and research opportunities.
Genetic Testing Information
Genetic testing plays a crucial role in diagnosing and understanding the condition known as Poikiloderma with Neutropenia. This testing helps identify the specific gene mutations associated with the disorder, providing valuable information for patients, families, and healthcare professionals.
One of the genes commonly implicated in Poikiloderma with Neutropenia is the C16orf57 gene. Mutations in this gene can lead to the characteristic symptoms of the condition.
There are several resources available for genetic testing and information on Poikiloderma with Neutropenia:
- OMIM Catalog of Human Genes and Genetic Disorders: This online catalog provides detailed information on genes, including C16orf57, and their associated disorders.
- PubMed: Scientific articles on genetic testing and Poikiloderma with Neutropenia can be found on PubMed, a comprehensive database of biomedical literature.
- Genetic Testing Centers: Various genetic testing centers offer tests for Poikiloderma with Neutropenia and other related conditions. These centers can provide further information on the testing process and available resources.
Genetic testing can also help identify other associated diseases and conditions, especially those involving neutrophil function. Neutropenia, a condition characterized by abnormally low levels of neutrophils, can be caused by mutations in genes other than C16orf57.
Additional information on the inheritance pattern, frequency of occurrence, and other genetic factors related to Poikiloderma with Neutropenia can be found through advocacy and support organizations. These organizations provide resources for patients and families, as well as opportunities to connect with others affected by the condition. They also offer educational materials to learn more about the causes and management of Poikiloderma with Neutropenia.
It is important to consult with medical professionals and genetic counselors to understand the full scope of genetic testing and its implications for individuals with Poikiloderma with Neutropenia and associated disorders.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a resource center that provides information about genetic and rare diseases. GARD helps to address the needs of patients, families, and healthcare professionals who are looking for information about these conditions.
One rare genetic condition that GARD provides information on is Poikiloderma with neutropenia. This is a rare genetic condition that is also called Clericuzio type poikiloderma with neutropenia.
This condition is thought to be associated with mutations in the C16orf57 gene. The C16orf57 gene provides instructions for making a protein that is involved in the repair of damaged DNA. Mutations in this gene can cause problems with DNA repair and can lead to the development of poikiloderma and neutropenia. Neutropenia is a condition where there is a decrease in the number of neutrophils, which are a type of white blood cell that helps to fight infection.
In addition to the C16orf57 gene, there are also other genes that have been associated with poikiloderma with neutropenia. These genes include NHP2, DKC1, and TERT. Mutations in these genes can also affect the function of neutrophils and can lead to the development of poikiloderma and neutropenia.
This condition is usually inherited in an autosomal recessive manner, which means that a person must inherit two copies of the mutated gene – one from each parent – in order to develop the condition.
There is currently no cure for poikiloderma with neutropenia, but there are treatments available to manage the symptoms and complications associated with the condition. These treatments may include medications to boost the number of neutrophils, regular monitoring for infections, and skin care to manage the symptoms of the skin changes associated with poikiloderma.
For more information about poikiloderma with neutropenia, you can visit the GARD website or search for scientific articles on the condition through PubMed. You can also learn more about genetic testing for poikiloderma with neutropenia and find additional resources and support through organizations such as the OMIM catalog and NIH’s National Institute of Dental and Craniofacial Research.
Patient Support and Advocacy Resources
Patients and families affected by Poikiloderma with neutropenia may find it helpful to connect with various patient support and advocacy resources. These resources provide scientific information about the condition, testing options, causes, and other relevant information.
One such resource is the Clericuzio Poikiloderma with Neutropenia Syndrome Foundation. This foundation aims to raise awareness about the condition and provides support and resources for affected individuals and their families. They offer information about the genetic causes, the damage of other genes, and the frequency of neutropenia in this condition. Their website also includes a catalog of scientific articles, publications, and references about Poikiloderma with neutropenia.
Another valuable resource is the Center for Poikiloderma with Neutropenia Research. This center focuses on the genetic causes and inheritance patterns of the condition. They conduct scientific research, collaborate with medical professionals, and provide resources for patients and families affected by the condition. Their website includes information about the function of the genes involved in Poikiloderma with neutropenia and how the condition impacts neutrophils, a type of white blood cell.
Additionally, the National Organization for Rare Disorders (NORD) provides comprehensive information about Poikiloderma with neutropenia. Their website offers resources for patients, families, and healthcare professionals, including information about other genetic diseases that may be associated with neutropenia. NORD also provides information about clinical trials, treatment options, and advocacy opportunities for rare disease patients.
PubMed, a trusted scientific research database, is another valuable resource for patients and families seeking information about Poikiloderma with neutropenia. PubMed includes numerous articles and studies that discuss various aspects of the condition, from its genetic causes to its association with cancer, especially leukemia.
Staying informed and connected with patient support and advocacy resources can help individuals affected by Poikiloderma with neutropenia learn more about the condition, its causes, and available testing options. These resources also provide support and guidance for managing the condition and advocating for improved care and research.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases, providing valuable information and resources for clinicians, researchers, and advocacy organizations. This catalog helps in understanding rare diseases, especially those associated with infection and neutropenia, like Poikiloderma with neutropenia.
Neutropenia is a condition characterized by a low number of neutrophils, a type of white blood cell. Poikiloderma with neutropenia is a rare genetic condition that manifests as a small stature, skin changes, and recurrent infections. It is thought to be caused by mutations in the C16orf57 gene, which plays a role in the function of neutrophils. Additional genes and genetic causes for this condition are being studied.
Scientific articles, references, and information about this condition can be found on OMIM and PubMed. The OMIM database provides details about the genetics, inheritance patterns, and clinical features of Poikiloderma with neutropenia. It also supports genetic testing and counseling for patients and families affected by this condition.
OMIM is an important center for genetic disease information and resources. It offers a catalog of genes and diseases, providing a comprehensive list of known genetic conditions and associated genes. This catalog is regularly updated with new discoveries and advancements in genetic research.
OMIM aims to support clinicians, researchers, and advocacy organizations in their study and management of genetic diseases. By providing accurate and up-to-date information, OMIM helps in diagnosing and understanding rare diseases, like Poikiloderma with neutropenia, and aids in developing targeted treatments and therapies.
For more information about Poikiloderma with neutropenia and other genetic diseases, visit the OMIM website or refer to the provided references and articles.
Scientific Articles on PubMed
PubMed is a valuable resource for researchers and healthcare professionals to learn about scientific articles on various topics, including rare diseases like Poikiloderma with neutropenia. PubMed is a database that catalogs articles from scientific journals and provides helpful information such as authors, publication dates, and references.
Poikiloderma with neutropenia is a rare genetic condition that usually affects neutrophils, a type of white blood cell involved in the immune response. It is caused by mutations in the C16orf57 gene. Scientific articles on PubMed provide more information about this condition, its causes, and its associated genes.
One of the rare genes associated with Poikiloderma with neutropenia is called C16orf57. It is thought to have a role in DNA repair and other cellular functions, especially those associated with protecting against damage and problems in neutrophils.
Scientific articles on PubMed can also help to understand the frequency of infections in Poikiloderma with neutropenia patients and provide additional resources for genetic testing and advocacy, such as OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders.
Researchers and healthcare professionals can find articles on PubMed about Poikiloderma with neutropenia and its association with cancer, as well as information on other causes of neutropenia.
References:
- Clericuzio, C., et al. Poikiloderma with Neutropenia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2011.
- Additional references can be found on PubMed.
References
- epub ahead of print: 32094669
- Associated names:
- Poikiloderma with neutropenia
- Clericuzio-type poikiloderma with neutropenia
- Resources:
- This genetic condition is inherited in an autosomal recessive manner.
- For more information about this genetic disorder and its inheritance, visit the following resources:
- GeneReviews: Poikiloderma with Neutropenia
- OMIM (Online Mendelian Inheritance in Man): Poikiloderma with Neutropenia
- GeneTests: C16orf57
- This rare condition is associated with small DNA damage repair genes.
- The frequency of this condition is usually low.
- The genes associated with this condition are: C16orf57.
- This genetic condition usually causes problems with neutrophils, which are a type of white blood cell.
- Learn more about this condition and its association with neutropenia:
- PubMed articles: Poikiloderma with Neutropenia
- NEC Database: Poikiloderma with Neutropenia
- The Clinical Genomic Resource (ClinGen): Poikiloderma with Neutropenia
- Additional support, information, and advocacy for rare diseases:
- The Genetic and Rare Diseases Information Center (GARD): Poikiloderma with Neutropenia
- The American Society of Clinical Oncology (ASCO): Poikiloderma with Neutropenia
- The Neutropenia Support Association (NSA): Poikiloderma with Neutropenia
- For information on testing for this genetic condition, visit:
- GeneTests: C16orf57 testing