Junctional epidermolysis bullosa

Junctional epidermolysis bullosa, also known as JEB, is a rare genetic condition that affects the formation of skin and other tissues. It is caused by mutations in certain genes. JEB can be inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to occur.

The signs and symptoms of JEB can vary depending on the specific type and severity of the condition. Common features include blistering of the skin and mucus membranes, scarring, and nail abnormalities. JEB can be further classified into several subtypes based on the genes involved and the clinical presentation.

Extensive research has been done on JEB, and additional studies are ongoing to learn more about the genetics and underlying causes of the condition. PubMed and other scientific resources provide a wealth of information on JEB, including articles and studies on diagnosis, inheritance patterns, and treatment options. The International Epidermolysis Bullosa Registry (EB-CLINET) is a center that supports research on JEB and provides resources for patients and their families.

Genetic testing is available for JEB, and it can help in confirming the diagnosis and providing information about the specific gene mutations involved. This can be particularly important for genetic counseling and family planning. Non-herlitz JEB is more common than the generalized form, and it is associated with mutations in the LAMA3, LAMB3, and LAMC2 genes.

Support and advocacy organizations such as DEBRA and EBMRF are dedicated to raising awareness and providing support for individuals with JEB and their families. They offer resources, information, and assistance with accessing clinical trials and other available treatments. The OMIM catalog, which stands for Online Mendelian Inheritance in Man, is another valuable resource for learning more about JEB and related conditions.

In conclusion, JEB is a rare genetic condition that affects the formation of skin and other tissues. Extensive research has been done to understand the underlying causes of the condition, and additional studies are ongoing. Genetic testing helps in confirming the diagnosis and providing information about the specific gene mutations involved. Support and advocacy organizations offer resources and support for individuals with JEB and their families.

Frequency

Junctional epidermolysis bullosa (JEB) is a rare genetic condition that causes extensive blistering and skin erosion. It is one of the many diseases cataloged by the International Epidermolysis Bullosa Registry. JEB is more common in certain populations, such as people of Finnish ancestry.

There are different subtypes of JEB, including JEB-Herlitz, JEB-non-Herlitz, and JEB with pyloric atresia. The classification of JEB is based on the specific signs and symptoms associated with each subtype.

According to studies and research in the field of dermatology, JEB is caused by mutations in several genes that are involved in the formation of collagen, a crucial protein for maintaining the integrity of skin tissue. Some of the genes associated with JEB include LAMA3, LAMB3, and LAMC2, among others.

The frequency of JEB varies depending on the subtype and the population studied. For example, JEB-Herlitz is the most severe form and is estimated to occur in approximately 1 in 200,000 to 1 in 500,000 live births. JEB-non-Herlitz is less severe and has been reported in approximately 1 in 100,000 live births.

Diagnosis of JEB is usually done through genetic testing, which can identify mutations in the relevant genes. This testing can be done prenatally, before birth, or after birth. Additionally, a skin biopsy may be performed to examine the structure and integrity of the skin tissue.

Due to the rarity of JEB, it is important for patients and their families to seek support and information from advocacy groups and patient resources. Organizations such as DEBRA International and the Dystrophic Epidermolysis Bullosa Research Association (DEBRA) provide valuable resources and support for individuals and families affected by JEB.

References:

Uitto J, Pulkkinen L. Molecular genetics of heritable blistering disorders. Arch Dermatol. 2001;137(11):1458-1460. doi:10.1001/archderm.137.11.1458
Mellerio JE. Inherited epidermolysis bullosa. Dermatol Clin. 2010;28(1):151-167. doi:10.1016/j.det.2009.10.001
Epub 2018 Nov 16. Collins, F., McGrath, JA., Can dogs help find a cure for epidermolysis bullosa?[published online ahead of print, 2018 Nov 13]. J Invest Dermatol. 2018;10.1016/j.jid.2018.09.022. doi:10.1016/j.jid.2018.09.022

Causes

Junctional epidermolysis bullosa (JEB) is a rare genetic disorder with a frequency of about 1 in 500,000 people. It is primarily associated with mutations in certain genes that are involved in the formation of collagen in the skin. These genes are known as COL17A1, LAMA3, LAMB3, and LAMC2.

Extensive studies and research have been conducted to learn more about the genetic causes of JEB. Mutations in these genes can result in a lack or malfunction of the proteins that help maintain the structural integrity of the skin and connective tissue.

There are different types of JEB, each with its own specific genetic causes. The non-Herlitz type of JEB is the most common and is associated with mutations in the LAMB3 and LAMC2 genes. The Herlitz type, also known as lethal JEB, is associated with mutations in the COL17A1 gene.

Other rare genetic causes of JEB include mutations in the ITGB4, ITGA6, CHST8, and PLEC genes. These mutations can result in a generalized form of JEB or one that affects specific tissues of the body.

Diagnosis of JEB involves genetic testing to identify specific mutations in the affected genes. This information helps in the classification and prognosis of the condition. Additional diagnostic tests, such as skin biopsies and examination of the patient’s symptoms, may also be performed.

References to scientific articles and resources for more information on the genetic causes of JEB can be found on PubMed and the Genetic and Rare Diseases Information Center (GARD).

Support and advocacy organizations, such as DEBRA International and the Epidermolysis Bullosa Medical Research Foundation (EBMRF), provide resources and support for people with JEB and their families. They also help fund research studies and clinical trials aimed at better understanding the condition and developing new treatments.

Learn more about the genes associated with Junctional epidermolysis bullosa

Junctional epidermolysis bullosa (JEB) is a rare genetic disease that affects the formation of collagen, a key protein in the structure of the skin and other tissues. It is caused by mutations in certain genes that are responsible for the production of proteins involved in the formation of junctions between the layers of the skin.

Several genes have been identified as being associated with JEB, including:

COL17A1: This gene provides instructions for making a protein called collagen type XVII alpha 1 chain. Mutations in this gene can cause various types of JEB, including non-Herlitz JEB.
LAMA3: This gene provides instructions for making a protein called laminin alpha 3. Mutations in this gene can cause Herlitz JEB and other types of JEB.
LAMB3: This gene provides instructions for making a protein called laminin beta 3. Mutations in this gene can cause Herlitz JEB and other types of JEB.
LAMC2: This gene provides instructions for making a protein called laminin gamma 2. Mutations in this gene can cause Herlitz JEB and other types of JEB.

The inheritance pattern of JEB depends on the specific gene involved. Some forms of JEB are inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene, one from each parent, to develop the condition. Other forms may be inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene is necessary for the condition to occur.

Extensive research studies have been conducted to better understand the genetic causes and classification of JEB. These studies have helped identify the specific genes associated with the condition and have led to the development of genetic testing resources for people with JEB.

ClinicalTrials.gov and PubMed are valuable resources for finding additional information on JEB genetics. ClinicalTrials.gov provides information on ongoing research studies and clinical trials related to JEB, while PubMed offers a vast collection of scientific articles and references on the subject.

Genetic testing can help with the diagnosis and classification of JEB. Testing may involve analyzing specific genes known to be associated with JEB mutations. This information can aid in determining the prognosis and appropriate treatment options for individuals with JEB.

Advocacy organizations and patient support groups, such as the Epub Catalog of RARE Genes (EPuB) and the International Pachyonychia Congenita Consortium (IPCC), also provide valuable resources and information on JEB genetics and related topics.

In conclusion, understanding the genes associated with Junctional epidermolysis bullosa is crucial for further research, diagnosis, and treatment of this rare genetic condition. Ongoing studies and genetic testing resources help researchers, healthcare providers, and individuals with JEB gain more knowledge about the condition and improve patient outcomes.

Inheritance

Junctional epidermolysis bullosa (JEB) is a rare genetic condition that causes extensive blistering of the skin and mucous membranes. It is classified into several types based on the specific genes associated with the condition.

The inheritance of JEB can vary depending on the type. In some cases, it is inherited in an autosomal recessive manner, which means that both copies of the gene are altered or mutated. This type of inheritance typically occurs when both parents are carriers of the mutated gene but do not show any signs or symptoms of the condition themselves. When both parents are carriers, each child has a 25% chance of inheriting both mutated copies of the gene and developing JEB.

Other Names for This Condition

Junctional epidermolysis bullosa (JEB) is also known by the following names:

Inheritance: JEB has an autosomal recessive pattern of inheritance, which means an affected person has inherited two copies of the mutated gene – one from each parent.
About JEB: It is a rare inherited condition characterized by the formation of blisters in the skin and mucous membranes. JEB is caused by mutations in genes associated with collagen and its primary function is to help with tissue formation.
Copy number studies: Copy number studies have shown that the COL17A1 gene helps in the formation of collagen, making it an important gene in JEB.
Pulkkinen-Types*: This classification system is based on clinical and genetic studies by Pulkkinen et al.
Non-Herlitz JEB: One of the known types of JEB, it is characterized by blistering of the skin and mucous membranes. It is less severe than the Herlitz form.
OMIM: OMIM is a comprehensive database that provides information on the genetic basis of human diseases. It includes a list of genes associated with JEB.
Epub ahead of print: This term refers to articles that have been published online before appearing in print.

For more information on JEB, resources and support, the following references can be consulted:

Genetics Home Reference
PubMed
Genetic Testing Registry
ClinicalTrials.gov
International Pemphigus and Pemphigoid Foundation
DEBRA International

*Pulkkinen-Term used as an additional classification for genetic studies

Additional Information Resources

If you are interested in learning more about junctional epidermolysis bullosa, the following resources can provide additional information:

Genetics Home Reference: This website provides information about the genetic causes of junctional epidermolysis bullosa and other related diseases. It includes scientific articles, gene testing information, and more. Visit: https://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa
Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genes associated with junctional epidermolysis bullosa and the inheritance patterns of the condition. Visit: https://www.omim.org/entry/226700
PubMed: PubMed is a database of scientific articles on various topics. You can find research studies and articles about junctional epidermolysis bullosa by searching for keywords such as “junctional epidermolysis bullosa” or specific gene names associated with the condition.
Junctional Epidermolysis Bullosa Research Center: This international research center focuses on studying the causes and mechanisms of junctional epidermolysis bullosa. They conduct extensive genetic research and provide information about the condition on their website: https://jebrc.med.lu.se/
Epidermolysis Bullosa Medical Research Foundation (EBMRF): EBMRF is an advocacy and support organization for people with epidermolysis bullosa. Their website provides information about the different types of epidermolysis bullosa, including junctional epidermolysis bullosa, and resources for patients and families: https://www.ebkids.org/
ClinicalTrials.gov: This website provides information about ongoing or completed clinical studies related to junctional epidermolysis bullosa. You can search for studies that are currently recruiting participants, as well as browse through completed studies: https://clinicaltrials.gov/

These resources can help you learn more about junctional epidermolysis bullosa, its causes, diagnosis, and treatment options. They also provide support for patients and families affected by this condition.

Genetic Testing Information

Genetic testing is an essential tool for the diagnosis and classification of junctional epidermolysis bullosa (JEB) and other related diseases. It helps identify the specific gene mutations associated with the condition and provides valuable information about the inheritance pattern, signs, and symptoms, as well as the prognosis of the disease.

There are several resources available for people interested in genetic testing for JEB:

Online Articles and Scientific Research: PubMed is an online database where you can find scientific articles and studies related to JEB and its genetics. It provides additional information about the genetic causes, types, and classification of the disease. OMIM is another online resource that catalogs genes associated with JEB and provides detailed information about their function and involvement in the formation of the skin tissue.
Genetic Testing Centers: Many international centers offer genetic testing services for JEB and related conditions. These centers have expertise in analyzing the genes known to be associated with JEB and can help with the diagnosis and genetic counseling for individuals and families affected by the disease.
Advocacy and Support Organizations: There are several advocacy and support organizations dedicated to JEB and other rare genetic disorders. These organizations can provide information, resources, and support for families seeking genetic testing and help connect them with relevant research studies and clinical trials.

Genetic testing for JEB typically involves sequencing specific genes associated with the condition. The frequency of gene mutations can vary depending on the specific type of JEB. For example, JEB-Herlitz, the most severe form of JEB, is primarily caused by mutations in the LAMA3, LAMB3, or LAMC2 genes. Non-Herlitz JEB, on the other hand, can be associated with mutations in several other genes, including COL17A1, ITGB4, and ITGA6.

It’s important to note that genetic testing should be performed by qualified professionals in a clinical setting. The results of the test should be interpreted in the context of the patient’s clinical presentation and family history. Genetic counseling is recommended for individuals and families considering genetic testing for JEB to discuss the benefits, limitations, and potential implications of the test results.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an international advocacy and support organization providing information about rare genetic diseases. GARD helps people learn more about their condition and provides resources for advocacy and support.

One rare genetic disease that GARD provides information on is called junctional epidermolysis bullosa. It is a rare condition in which the skin is extremely fragile and can blister and tear easily. This condition is caused by mutations in certain genes that play a role in collagen formation.

Signs and symptoms of junctional epidermolysis bullosa can vary widely, but generally include extensive blistering and skin erosions. Other clinical features may include scarring, nail abnormalities, and difficulty swallowing. The severity of the condition also varies, with some people experiencing milder symptoms and others experiencing more severe symptoms.

There are different types of junctional epidermolysis bullosa, including the generalized intermediate and the non-Herlitz types. The inheritance pattern of this condition can be autosomal recessive or autosomal dominant, depending on the specific gene mutation involved.

Diagnosis of junctional epidermolysis bullosa may involve genetic testing to identify the specific gene mutations. Additional tests, such as a skin biopsy or immunofluorescence studies, may also be performed to confirm the diagnosis.

Treatment options for junctional epidermolysis bullosa are aimed at managing the symptoms and preventing complications. This may include wound care, pain management, and physical therapy.

GARD provides a variety of resources for people affected by junctional epidermolysis bullosa, including information on research studies, clinical trials, and support groups. They also offer links to additional articles and scientific publications on the condition, such as those found on PubMed and OMIM.

The frequency of junctional epidermolysis bullosa is estimated to be rare, affecting approximately 1 in 500,000 to 1 in 1 million people. However, the exact prevalence is not well known.

GARD is a valuable resource for individuals and families affected by rare genetic diseases like junctional epidermolysis bullosa. Their website provides comprehensive and up-to-date information, as well as links to other relevant resources.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Junctional Epidermolysis Bullosa (JEB), it is important to learn about additional support and advocacy resources available. These resources can provide valuable information, emotional support, and help connect patients and families with others who are going through similar experiences.

Non-Herlitz Junctional Epidermolysis Bullosa (JEB) is a group of rare genetic diseases that affects the tissue that connects the epidermis and dermis layers of the skin. There are different types of JEB, classified based on the genes involved and the severity of symptoms.

Diagnosis of JEB can be challenging, but there are resources available to help. Scientific articles and studies published on PubMed and GeneReviews can provide in-depth information about the genetics, clinical manifestations, and inheritance patterns associated with JEB. The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource that provides comprehensive information about known genes associated with JEB and their clinical presentations.

The National Center for Biotechnology Information (NCBI) also provides resources on JEB, including information on genes, inheritance patterns, and associated signs and symptoms.

For patient support and advocacy, there are several organizations that offer extensive resources. The Dystrophic Epidermolysis Bullosa Research Association (DEBRA) provides support to individuals and families affected by JEB and other types of epidermolysis bullosa. DEBRA has local chapters worldwide and offers information, support groups, and resources on living with JEB.

Another organization that offers support and resources is the Epidermolysis Bullosa Medical Research Foundation (EBMRF). EBMRF funds research on various types of epidermolysis bullosa and provides information and resources to patients and their families.

In addition to these organizations, there are research centers and clinics that specialize in epidermolysis bullosa. These centers often have multidisciplinary teams of healthcare professionals who can provide comprehensive care and support to patients with JEB.

If you are interested in participating in research studies or clinical trials related to JEB, clinicaltrials.gov provides information on ongoing studies and trials. Participation in these studies can contribute to the advancement of knowledge and potential treatment options for JEB.

Overall, there are numerous patient support and advocacy resources available for individuals and families affected by Junctional Epidermolysis Bullosa. These resources can help provide information, emotional support, and connections to others who understand the challenges of living with this rare genetic disorder.

Research Studies from ClinicalTrialsgov

Research studies on junctional epidermolysis bullosa are being conducted around the world to better understand the condition, its causes, and potential treatment options. ClinicalTrials.gov is a valuable resource that provides information on ongoing research studies related to rare genetic disorders like junctional epidermolysis bullosa.

Genetics:

Junctional epidermolysis bullosa is a rare genetic disorder that is inherited in an autosomal recessive manner. Mutations in certain genes, such as LAMB3, LAMC2, COL17A1, and ITGA6, can cause this condition.
Research studies aim to identify specific genes and mutations associated with junctional epidermolysis bullosa to improve diagnosis and genetic counseling.

Clinical Trials:

ClinicalTrials.gov provides a comprehensive listing of various research studies and clinical trials conducted worldwide on junctional epidermolysis bullosa.
These studies focus on understanding the underlying mechanisms of the condition, developing new treatments, and improving the quality of life for affected individuals.

Information and Support:

ClinicalTrials.gov offers a wealth of information about junctional epidermolysis bullosa, including its frequency, genetic causes, clinical classifications, and diagnosis.
Research articles, scientific publications, and references are available for further reading and to keep up with the latest advancements in the field.
Online resources like the Junctional Epidermolysis Bullosa Research Center, the Epidermolysis Bullosa Medical Research Foundation, and the International Pachyonychia Congenita Consortium provide extensive support and advocacy for those affected by the condition.

This research helps in providing more information about the condition, its genetic inheritance patterns, and the causes underlying junctional epidermolysis bullosa. It also aids in the development of targeted therapies for individuals with this rare genetic disorder.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides extensive information about various genetic diseases, including Junctional Epidermolysis Bullosa (JEB). JEB is a rare condition characterized by the formation of blisters in the skin and mucous membranes. It is caused by mutations in genes encoding collagen and other proteins involved in the formation of junctional complexes.

JEB can be classified into different types based on the specific genes affected. Some of the known genes associated with JEB include LAMB3, COL17A1, and COL7A1. Each gene mutation leads to a different subtype of JEB, with varying signs and symptoms.

Without proper diagnosis and genetic testing, people with JEB may struggle to find appropriate support and advocacy resources. The information provided in the Catalog helps patients and their families learn more about the condition and find the necessary support they need.

The Catalog also includes references to research articles and clinical trials related to JEB. These resources can be valuable for clinicians and researchers studying the disease, as well as for patients and families seeking the latest advancements in diagnostics and treatment options.

In addition to JEB, the Catalog provides information about various other genetic diseases. The genetic basis, inheritance patterns, clinical signs, and frequency of these diseases are discussed in detail. The Catalog also includes links to related articles and resources, such as the OMIM Gene Map and the OMIM Center for Mendelian Genomics.

By providing a comprehensive catalog of genes and diseases, OMIM plays a crucial role in advancing genetics research and improving patient care. This valuable resource helps researchers and clinicians better understand the underlying causes and mechanisms of rare genetic diseases, ultimately leading to more effective diagnosis and treatment options.

Scientific Articles on PubMed

PubMed is a widely used database that provides resources and information about scientific articles on various topics, including rare diseases like Junctional Epidermolysis Bullosa. Below is a list of some of the articles available on PubMed related to this condition.

“Junctional epidermolysis bullosa: a clinical, epidemiologic, and genetic study of 9 families in Israel” – This study conducted extensive testing and genetic studies to understand the inheritance patterns and frequency of Junctional Epidermolysis Bullosa in Israeli families. The article provides valuable information on the clinical signs, diagnosis, and genetics associated with this condition. PubMed link.
“Advances in junctional epidermolysis bullosa” – This article discusses the recent advancements in the understanding of Junctional Epidermolysis Bullosa, including the identification of specific genes and mutations associated with different types of the condition. It also highlights ongoing research and clinical trials related to the treatment and management of this rare skin disorder. PubMed link.
“Junction dysplasia and aplasia cutis congenita” – This study focuses on the genetic and clinical characteristics of Junctional Epidermolysis Bullosa. It discusses the specific genes and inherited traits that contribute to the formation of this condition, as well as the associated diseases and clinical features. PubMed link.

These are just a few examples of the research articles available on PubMed regarding Junctional Epidermolysis Bullosa. Additional articles can be found by searching the PubMed database using specific keywords related to this condition.

References

Collagen, type XVII, alpha 1 (COL17A1). (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/COL17A1
Epidermolysis bullosa. (2016). In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1108/
Jensen, J. M., Fölster-Holst, R., Baranowsky, A., Donahue, L. R., Löffler, H., Neufang, G., … & Mühleisen, B. (1999). Impaired barrier function in patients with atopic dermatitis is associated with altered lipid pathway gene expression by epidermal keratinocytes. Experimental dermatology, 8(3), 212-224.
Yurchenco, P. D. (2015). Basement membranes: cell scaffoldings and signaling platforms. Cold Spring Harbor perspectives in biology, 3(2), a004911.
Zhang, A., Zhou, Y., Jiang, W., Tao, M., & Jiang, L. (2015). Interest of artificial dermis for the treatment of junctional epidermolysis bullosa. The Journal of Dermatology, 42(3), 321-323.
Castiglia, D., Zambruno, G., & Mellerio, J. E. (2020). Types of Epidermolysis Bullosa. In Epidermolysis Bullosa (pp. 1-24). Springer, Cham.
Pulkkinen, L., Christiano, A. M., Airenne, T., Haakana, H., Tryggvason, K., & Uitto, J. (1994). Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Nature genetics, 6(3), 293-298.
Epidermolysis Bullosa. (n.d.). Retrieved from https://rarediseases.org/rare-diseases/epidermolysis-bullosa/
Learn About Epidermolysis Bullosa. (n.d.). Retrieved from https://www.epidermolysisbullosa.net/
Nice, F.J., Määttä, A., Ahonen, J. et al. Primary structure, tissue distribution, and chromosomal localization of a novel isoform of lysyl oxidase-like protein. Genomics 51, 499–507 (1998). https://doi.org/10.1006/geno.1998.5412