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Nonbullous Congenital Ichthyosiform Erythroderma (NBCIE) is a rare genetic condition estimated to affect a small frequency of individuals. It is characterized by the presence of thickened, scaling skin that can cover the whole body, leading to dehydration and other associated problems.

This condition can cause significant impairment in the patient’s quality of life, and additional testing and clinical evaluation may be required to accurately diagnose and manage the condition. NBCIE is associated with mutations in specific genes, and genetic testing can offer more information about the underlying causes and inheritance patterns.

The Zimmer Congenital Ichthyosis Registry is a valuable resource for patients and healthcare professionals seeking more information about NBCIE. It provides access to scientific research articles, clinical trials, and other resources to support advocacy and research in this rare disease.

OMIM, PubMed, and ClinicalTrials.gov are also available resources to learn more about the condition, its associated genes, and ongoing studies. Patients and their families can find support and information from advocacy organizations and support groups specialized in ichthyosis and other rare genetic conditions.

For more information about NBCIE and other rare diseases, patients and healthcare professionals can reach out to the Genetic and Rare Diseases Information Center (GARD) to access reliable and up-to-date information.

In conclusion, nonbullous congenital ichthyosiform erythroderma is a rare condition that can cause significant skin problems and dehydration. Genetic testing and resources from the Zimmer Congenital Ichthyosis Registry, OMIM, PubMed, and ClinicalTrials.gov can provide additional information and support for affected individuals and their families. Further research and clinical trials are necessary to better understand the genetics and management of this condition.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

Frequency

Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a rare genetic condition that affects the skin. The exact frequency of NBCIE is difficult to determine because it is a rare disease and there is no central registry for collecting data on affected individuals. However, it is estimated that NBCIE occurs in approximately 1 in 200,000 to 600,000 births.

The genetic causes of NBCIE have been identified in several genes, including ABCA12, ALOX12B, and NIPAL4. Mutations in these genes can impair the skin’s ability to develop and function properly, leading to the symptoms of NBCIE.

While NBCIE is a rare condition, it is important for patients and their families to seek genetic testing and counseling to better understand the inheritance pattern and risks for future generations. This information can also help guide treatment options and management strategies.

There are several resources available for patients and families affected by NBCIE. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed scientific information on the genetic causes and associated symptoms of NBCIE. PubMed and other scientific articles can also provide valuable information on the latest research and treatment options.

In addition, advocacy and support groups such as the Ichthyosis Support Group and the Foundation for Ichthyosis and Related Skin Types (FIRST) offer resources, educational materials, and opportunities to connect with other individuals and families affected by NBCIE. These organizations also provide information on clinical trials and research studies that may be available for patients with NBCIE.

It is important for patients and their families to learn more about this rare genetic condition and seek support from these resources. By staying informed and connected, patients and families can better navigate the challenges associated with NBCIE and access the necessary support and care.

  1. Zimmer AD, et al. Genodermatoses. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK555982/
  2. Traupe H. The Ichthyoses: A Guide to Clinical Diagnosis, Genetic Counseling, and Therapy. 2nd edition. Springer; 2016.
References:

Causes

Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a rare genetic condition that is inherited in an autosomal recessive manner. It is caused by mutations in the ABCA12 gene, which is responsible for production of a protein necessary for the normal development of the skin’s outermost layer.

Research has identified over 70 different mutations in the ABCA12 gene that can cause NBCIE. These mutations can impair the function of the protein produced by the gene, leading to the characteristic symptoms of the condition. The exact mechanisms through which these mutations cause NBCIE are still being investigated.

Additional genes may also be involved in the development of nonbullous congenital ichthyosiform erythroderma, as there are some individuals with symptoms of NBCIE who do not have mutations in the ABCA12 gene. Ongoing research is focused on identifying these other genes and understanding their roles in the condition.

The frequency of NBCIE is estimated to be approximately 1 in 200,000 individuals. This rarity makes it difficult to collect comprehensive data on the condition. However, several registries and advocacy organizations exist to support and provide information for individuals and families affected by NBCIE.

Some of the resources available for learning more about NBCIE include the Ichthyosis Information Center, the Genetic and Rare Diseases (GARD) Information Center, and the OMIM catalog of human genes and genetic disorders. These resources provide information on the clinical features, diagnosis, and management of NBCIE, as well as links to research articles and genetic testing services.

ClinicalTrials.gov is also a valuable resource for finding ongoing studies and clinical trials related to nonbullous congenital ichthyosiform erythroderma. These research studies aim to improve our understanding of the condition and develop new treatment options to alleviate the symptoms and associated problems, such as dehydration and impaired skin barrier function.

In summary, nonbullous congenital ichthyosiform erythroderma is a rare genetic condition caused by mutations in the ABCA12 gene. Additional genes may also play a role in the development of NBCIE. Resources such as registries, advocacy organizations, OMIM, and ClinicalTrials.gov provide valuable information and support for individuals and families affected by NBCIE.

Learn more about the genes associated with Nonbullous congenital ichthyosiform erythroderma

Nonbullous congenital ichthyosiform erythroderma (NBCIE), also known as nonbullous ichthyosis or ichthyosis erythroderma, is a rare genetic condition that affects the skin. It is characterized by dry, scaly skin that can be red and inflamed. This condition can cause significant discomfort and impair the skin’s ability to protect against dehydration and infections.

See also  HJV gene

Research on nonbullous congenital ichthyosiform erythroderma has identified several genes that are associated with the condition. These genes include ABCA12, ALOXE3, ALOX12B, CYP4F22, PNPLA1, and TGM1. Mutations in these genes can impair the skin’s barrier function and lead to the characteristic symptoms of NBCIE.

Genetic testing is available to confirm a diagnosis of nonbullous congenital ichthyosiform erythroderma. This testing can identify specific mutations in the associated genes and help determine the inheritance pattern of the condition. It can also provide important information for genetic counseling and family planning.

Additional studies and research on the causes and genetics of nonbullous congenital ichthyosiform erythroderma are ongoing. Scientific resources and research centers, such as the National Center for Advancing Translational Sciences (NCATS), have cataloged articles and information about this and other rare diseases. These resources can be helpful for individuals and families seeking more information and support.

ClinicalTrials.gov, a registry of clinical trials, provides information on ongoing research and clinical trials related to nonbullous congenital ichthyosiform erythroderma. Participation in clinical trials may offer access to new treatments and contribute to scientific advancements in understanding and managing this condition.

In addition to scientific resources, advocacy and support groups are available for individuals and families affected by nonbullous congenital ichthyosiform erythroderma. These groups can provide valuable support, information, and connections to other individuals facing similar challenges.

References:

  1. Sauer, C., Körber, I., & Traupe, H. (2010). Ichthyosis: a guide to clinical diagnosis, genetic counseling, and therapy. Springer Science & Business Media.
  2. National Institutes of Health. (2021). Ichthyosis. Retrieved from https://ghr.nlm.nih.gov/condition/ichthyosis
  3. Online Mendelian Inheritance in Man (OMIM). (2021). #242100 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2; ARCI2. Retrieved from https://www.omim.org/entry/242100

Inheritance

Nonbullous congenital ichthyosiform erythroderma (NBCIE) has an autosomal recessive inheritance pattern. This means that individuals with the condition inherit two copies of the mutated gene, one from each parent.

There are several genes that can cause NBCIE, including TGM1, ALOXE3, ALOX12B, and CYP4F22. Mutations in these genes can impair the normal function of the skin, leading to the characteristic features of NBCIE.

It is estimated that NBCIE affects approximately 1 in 200,000 to 300,000 individuals worldwide. The condition is rare and can be associated with significant clinical problems, such as dehydration and temperature regulation difficulties.

Genetic testing can be used to confirm a diagnosis of NBCIE and to identify the specific gene mutation causing the condition. This information can be valuable for genetic counseling, family planning, and understanding the underlying causes of the disease.

For more information about NBCIE, its inheritance, and genetic causes, you can visit resources such as the Online Mendelian Inheritance in Man (OMIM) website, which provides detailed information on the genes associated with the condition. Additionally, scientific articles and studies on PubMed and ClinicalTrials.gov may provide additional insights and research opportunities.

Support and advocacy resources, such as the National Registry for Ichthyosis and Related Disorders (FIRST), can also provide useful information and connect individuals with NBCIE to a community of patients, families, and researchers.

Other Names for This Condition

Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a rare genetic condition that affects the skin. It is also known by other names, including:

  • Nonbullous ichthyosiform erythroderma
  • Trupe type ichthyosis
  • Ichthyosis, nonbullous congenital
  • Ichthyosis, traupe type

This condition has been reported in medical literature and is listed in databases such as PubMed and OMIM. It is estimated to have a small frequency in the population and is associated with a number of genetic causes. Additional scientific research and genetic testing are available to learn more about the condition and its causes.

Patients with NBCIE may experience symptoms such as dry, scaly, and thickened skin that can impair their daily activities. Other problems associated with the condition include dehydration and temperature regulation difficulties.

Resources and support for individuals with NBCIE and their families are available. These include advocacy organizations, patient registries, and clinicaltrials.gov for information on ongoing research studies. The National Registry for Ichthyosis and Related Disorders is a valuable resource for individuals and families seeking more information about NBCIE and other related conditions.

Genetic testing is available to determine the specific genes associated with NBCIE. Novel genes have been identified through scientific research, providing new insights into the genetic basis of the condition.

For more information, articles and references related to nonbullous congenital ichthyosiform erythroderma can be found in scientific journals and databases such as PubMed and OMIM.

Additional Information Resources

  • Registry: A registry is available for nonbullous congenital ichthyosiform erythroderma (NBCIE) patients to participate in research studies and contribute to the advancement of knowledge about this rare genetic condition. Check with the Zimmer Center for Rare Diseases for more information.
  • Genetic Testing: Genetic testing is available to identify the specific genes associated with NBCIE. This can help with diagnosis, inheritance counseling, and understanding the causes of the condition. Contact the Zimmer Center for Rare Diseases or other scientific laboratories to learn more about available testing options.
  • Support and Advocacy: Several advocacy groups and organizations provide support and resources to individuals and families affected by NBCIE. These include the Ichthyosis Support Group and the National Organization for Rare Disorders. These resources can provide information, connect individuals with others facing similar challenges, and offer emotional support.
  • Additional Articles and Resources: PubMed and other scientific databases provide a wealth of research articles and studies on nonbullous congenital ichthyosiform erythroderma. Use keywords such as “NBCIE,” “nonbullous congenital ichthyosiform erythroderma,” and “ichthyosis” to find relevant information. The OMIM catalog also provides information on the genetic inheritance and clinical features of NBCIE.
  • Clinical Trials: Clinical trials may be available to investigate new treatment options and therapies for NBCIE. Visit ClinicalTrials.gov to find more information about ongoing or upcoming trials.
  • Dehydration and Other Problems: Nonbullous congenital ichthyosiform erythroderma can cause issues with skin dehydration and other complications. It is important to manage these problems through appropriate skin care and hydration techniques. Consult with a dermatologist or healthcare professional for guidance.
  • References and Resources: For more information about nonbullous congenital ichthyosiform erythroderma, its causes, and potential treatments, refer to the following resources:
    • – Zimmer Center for Rare Diseases
    • – Ichthyosis Support Group
    • – National Organization for Rare Disorders
    • – PubMed
    • – OMIM catalog
    • – ClinicalTrials.gov
See also  GNMT gene

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of nonbullous congenital ichthyosiform erythroderma (NBCIE). This rare genetic disorder affects the skin, causing it to become dry, thick, and scaly. Patients with NBCIE often face physical and emotional challenges associated with their condition.

Advances in scientific research have led to a better understanding of the genetic causes of NBCIE. Genetic testing can help identify specific genes associated with the condition and provide valuable information about its inheritance patterns. This information can be useful for patient advocacy groups, support groups, and research efforts.

There are several resources available for individuals seeking genetic testing information for NBCIE. The Online Mendelian Inheritance in Man (OMIM) database provides in-depth information about genetic conditions, including NBCIE. The Genetic Testing Registry (GTR) offers a catalog of genetic tests and laboratories that provide testing services for NBCIE and other rare diseases.

ClinicalTrials.gov provides information about ongoing research studies and clinical trials related to NBCIE. These studies may provide additional information about the condition and potential treatment options. PubMed, a database of scientific articles, is also a valuable resource for gathering information about NBCIE and related topics.

Genetic Testing Frequency and Available Tests

Genetic testing for NBCIE is relatively small due to its rarity, but there are several genes known to be associated with the condition. The most common genes tested for NBCIE are TGM1 and ALOX12B. Mutations in these genes impair the skin’s ability to retain moisture, leading to the characteristic symptoms of NBCIE.

Patients undergoing genetic testing for NBCIE should consult with a genetic counselor to discuss available testing options and their implications. Genetic counselors can help interpret test results and provide guidance on how to manage the condition.

References and Additional Resources

  • Zimmer, A.D., Traupe, H. Nonbullous Congenital Ichthyosiform Erythroderma. 2020 Jan 23. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.
  • Learn more about nonbullous congenital ichthyosiform erythroderma on the Foundation for Ichthyosis & Related Skin Types (FIRST) website: https://www.firstskinfoundation.org/

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a small nonbullous congenital ichthyosiform erythroderma (NBCIE) advocacy and support center that provides information about rare genetic diseases and associated genes. GARD is a valuable resource for patients, families, healthcare professionals, and researchers seeking information about NBCIE and other rare diseases.

GARD offers a comprehensive catalog of genetic diseases, including NBCIE, with information on the estimated frequency, inheritance patterns, associated genes, and clinical features. The center provides information on available resources, clinical trials, and genetic testing options for NBCIE and other congenital ichthyosis conditions.

As NBCIE is a rare condition, resources and scientific articles about the disease are limited. However, GARD is continuously updated with new references and additional research articles as they become available. GARD also provides links to other reputable resources, such as OMIM, PubMed, and ClinicalTrials.gov, where users can learn more about NBCIE and find information on ongoing research studies.

In addition to providing information, GARD offers support to patients and families affected by NBCIE and other rare diseases. Through advocacy efforts, GARD strives to raise awareness about the impact of NBCIE and promote research to better understand its causes and develop effective treatments. GARD collaborates with research institutions, patient organizations, and advocacy groups to facilitate the sharing of information and support initiatives that aim to improve the lives of those affected by NBCIE.

In conclusion, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking information about nonbullous congenital ichthyosiform erythroderma (NBCIE) and other rare genetic diseases. GARD provides comprehensive information, access to scientific articles, links to additional resources, and support for patients and families affected by NBCIE. By promoting research and advocacy efforts, GARD contributes to the understanding and management of NBCIE.

Patient Support and Advocacy Resources

Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a rare genetic condition that affects the skin. It is estimated that NBCIE affects about 1 in every 200,000 individuals.

For patients and families affected by NBCIE, there are several patient support and advocacy resources available. These resources provide valuable information, support, and assistance for those living with the condition.

  • Ichthyosis Support Group (ISG): The ISG is a patient support organization that provides resources and support for individuals and families affected by all forms of ichthyosis, including NBCIE. The organization offers educational materials, a helpline, online support forums, and opportunities to connect with other individuals living with similar conditions.
  • Foundation for Ichthyosis & Related Skin Types (FIRST): FIRST is a non-profit organization dedicated to improving the lives of individuals and families affected by all forms of ichthyosis. They offer comprehensive resources on the various types of ichthyosis, including NBCIE, and provide support through educational materials, advocacy efforts, and research funding.
  • Genetic and Rare Diseases Information Center (GARD): GARD is a government-funded resource that provides information on genetic and rare diseases. They offer detailed information on the causes, symptoms, inheritance, and frequency of NBCIE, as well as links to other relevant resources and research studies.
  • Online Patient Registries: There are several online patient registries available that allow individuals with NBCIE and their families to connect with others, share experiences, and contribute to research efforts. These registries facilitate the collection of valuable data that can assist scientists and researchers in understanding the condition better.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of privately and publicly funded clinical studies conducted worldwide. Individuals with NBCIE and their families can search this database to find information on ongoing clinical trials and research studies related to the condition. Participation in clinical trials can offer opportunities for access to novel treatments and therapies.

These resources, along with scientific research and clinical studies, provide a valuable network of support and information for patients and families affected by nonbullous congenital ichthyosiform erythroderma. By connecting with these resources, individuals can learn more about the condition, find support, and stay informed about the latest advancements in research and treatment options.

Research Studies from ClinicalTrialsgov

Rare diseases such as nonbullous congenital ichthyosiform erythroderma (NBCIE) require scientific research studies to learn more about their causes, genetic inheritance, and associated impairments. NBCIE, also known as nonbullous ichthyosis or nonbullous erythroderma, is a congenital condition that affects the skin, causing it to become dry, scaly, and red.

See also  Robinow syndrome

Research studies on NBCIE can provide valuable information about the condition and improve patient care. ClinicalTrials.gov is a comprehensive catalog of clinical research studies that aims to provide information on ongoing and completed studies related to various diseases, including rare conditions like NBCIE.

Through ClinicalTrials.gov, researchers can find resources and support for their studies on NBCIE. This platform allows researchers to share their findings and collaborate with other experts in the field. By studying the genetic causes of NBCIE, researchers can identify novel genes associated with the condition and develop targeted therapies.

For patients and their families, ClinicalTrials.gov provides access to information about ongoing clinical trials and research studies related to NBCIE. This can be useful for those interested in participating in studies or seeking additional resources and support.

In addition to ClinicalTrials.gov, other valuable resources for learning more about NBCIE include the Online Mendelian Inheritance in Man (OMIM) database and PubMed. These platforms contain articles, references, and genetic testing information related to NBCIE and other congenital ichthyoses.

Advocacy organizations and patient registries also play an important role in supporting research and increasing awareness of NBCIE. These organizations provide information, resources, and support networks for individuals and families affected by NBCIE.

In conclusion, research studies on nonbullous congenital ichthyosiform erythroderma are crucial for understanding this rare condition and developing effective treatments. Platforms like ClinicalTrials.gov provide a centralized catalog of ongoing and completed studies, while other resources like OMIM and PubMed offer scientific references and genetic testing information. Advocacy organizations and patient registries also contribute to the support and awareness of NBCIE.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases associated with nonbullous congenital ichthyosiform erythroderma (NBCIE), a rare genetic condition that affects the skin. NBCIE is estimated to occur in approximately 1 in 200,000 births, making it a relatively rare condition.

Nonbullous congenital ichthyosiform erythroderma is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to develop the condition. The genetic cause of NBCIE is not well understood, but research studies have identified several genes that can be associated with the condition.

The OMIM database provides a wealth of information on the genes and diseases associated with NBCIE. It includes detailed descriptions of the clinical features, inheritance patterns, and genetic mutations associated with the condition. In addition, the database provides links to scientific articles, reviews, and other resources that provide further information and support for patients and their families.

For healthcare providers and researchers, OMIM serves as a valuable resource for understanding the genetic basis of NBCIE and for conducting further research studies. The database allows users to search for specific genes or diseases, browse through the catalog of associated genes, and access additional resources, such as genetic counseling centers, advocacy organizations, and clinical trials.

OMIM also includes information on other types of ichthyosis, a group of rare genetic skin disorders. By exploring the database, researchers and healthcare providers can gain a better understanding of the underlying causes of ichthyosis and potentially develop novel treatments for these conditions.

In summary, the OMIM database provides a comprehensive catalog of genes and diseases associated with nonbullous congenital ichthyosiform erythroderma and other types of ichthyosis. It offers valuable resources and information for patients, healthcare providers, and researchers alike. If you want to learn more about NBCIE or find additional resources, you can explore the OMIM database or visit websites such as PubMed, ClinicalTrials.gov, or the NBCIE Advocacy Center.

References:

  1. Zimmer AD, Traupe H. ABCA12-Related Congenital Ichthyosis. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2003-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1423/
  2. OMIM – Online Mendelian Inheritance in Man. Available from: https://omim.org/
  3. PubMed – National Library of Medicine. Available from: https://pubmed.ncbi.nlm.nih.gov/
  4. ClinicalTrials.gov. Available from: https://clinicaltrials.gov/
  5. NBCIE Advocacy Center. Available from: [insert link to advocacy center]

Scientific Articles on PubMed

Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a rare genetic condition that causes dry, scaly skin and dehydration. It is associated with mutations in several genes, including TGM1, ALOX12B, ALOXE3, and NIPAL4. The condition is estimated to affect less than 1 in 200,000 individuals.

Testing for NBCIE can be done through genetic testing, which involves analyzing the genes associated with the condition. This can help confirm a diagnosis and determine the specific gene mutations present in a patient. Genetic testing is available through specialized genetic centers and laboratories.

Scientific articles on PubMed provide valuable information about NBCIE. These articles can be used as resources for healthcare professionals and researchers interested in learning more about the condition. They offer additional insight into the clinical features, inheritance patterns, and management of NBCIE.

References to scientific articles on PubMed can be found through resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center (GARD). These databases contain a catalog of articles related to NBCIE and other rare genetic diseases.

Patient registries and advocacy organizations also provide information and support for individuals with NBCIE and their families. These resources can help connect patients with clinical trials and research studies aimed at finding novel treatments for the condition. Information about ongoing clinical trials can also be found on ClinicalTrials.gov.

Despite the availability of resources and scientific articles, there are still challenges associated with NBCIE. The condition is rare, making it difficult to conduct large-scale studies. Additionally, the small number of patients with NBCIE can limit the availability of research funding and clinical trial opportunities.

Resources Websites
OMIM https://www.omim.org/
Genetic and Rare Diseases Information Center (GARD) https://rarediseases.info.nih.gov/
ClinicalTrials.gov https://www.clinicaltrials.gov/

References

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