Epidermolysis bullosa simplex (EBS) is one of the types of epidermolysis bullosa (EB), a group of rare genetic disorders that cause the skin to be fragile and prone to blistering. EBS is formerly known as epidermolysis bullosa simplex, generalized. It is a rare condition, with a frequency of approximately 1 in 30,000 to 50,000 births, and is associated with mutations in one of several genes.
The cause of EBS is genetic, with most cases inheriting the condition in an autosomal dominant manner. This means that one copy of the defective gene is all that is needed to cause the disorder. However, there have been cases where EBS has been inherited in an autosomal recessive manner, meaning that two copies of the defective gene are required.
EBS is characterized by the formation of blisters, making the skin very fragile. The blisters can occur anywhere on the body, but are most commonly seen on the hands, feet, knees, and elbows. In some cases, the blistering extends to the mucous membranes, such as the inside of the mouth and the esophagus. Other features of EBS can include nail dystrophy, hair loss, and palmoplantar keratoderma (thickened skin on the palms and soles).
Diagnosis of EBS is usually based on the clinical signs and features of the condition. Genetic testing can also be done to confirm the diagnosis and identify the specific gene mutation. There is no cure for EBS, so treatment focuses on managing the symptoms and preventing complications. This may include wound care, pain management, and protecting the skin from further damage.
Research and advocacy organizations, such as the Dystrophic Epidermolysis Bullosa Research Association (DEBRA), provide support and resources for individuals and families affected by EBS. Ongoing scientific studies and clinical trials are also focused on finding new treatments and improving the quality of life for patients with EBS. Additional information about EBS, including genetic references and OMIM catalog entries, can be found on scientific websites and databases.
Frequency
Epidermolysis bullosa simplex (EBS) is a rare genetic condition that causes the skin to be fragile and prone to blistering. EBS is one of the types of epidermolysis bullosa, a group of disorders that affect the skin and other tissues.
The frequency of EBS can vary depending on the population studied, making it difficult to determine the exact prevalence. However, it is estimated to occur in about 1 in 30,000 to 1 in 70,000 births. EBS can affect people of all races and ethnicities.
Research has shown that EBS is predominantly caused by mutations in several genes, including KRT5, KRT14, KRT6A, and KRT16. These genes provide instructions for making the proteins that form the intermediate filaments in the skin. Mutations in these genes can disrupt the structure and function of the filaments, leading to the characteristic blistering and fragility of the skin.
EBS is classified into different types based on the specific gene mutations and the associated signs and symptoms. The major types include EBS simplex (formerly known as EBS Weber-Cockayne), EBS with mottled pigmentation, and EBS with muscular dystrophy.
Clinical features of EBS may include blistering and skin erosions, particularly on the hands, feet, knees, and elbows. The blisters may also occur in the mouth, esophagus, and other mucous membranes. In some cases, the nails may be thickened or dystrophic.
Diagnosis of EBS is typically made based on the clinical features and confirmed through genetic testing. Testing can identify the specific gene mutations associated with the condition.
There is currently no cure for EBS, and treatment focuses on managing the symptoms and preventing complications. This may include wound care, pain management, and protective measures to prevent injury and infection.
More information about EBS and other genetic disorders can be found on resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry. These resources provide references to scientific articles, case studies, and additional information on the genes, types, and features of EBS.
In addition to the scientific resources, there are also advocacy and support organizations dedicated to raising awareness and providing support for individuals and families affected by EBS. These organizations may offer resources such as educational materials, support groups, and information about clinical trials and research studies.
| 1. | Lucky Uitto | Epidermolysis Bullosa Simplex | GeneReviews® |
| 2. | Epidermolysis bullosa simplex | Genetics Home Reference | |
| 3. | Nail dystrophy in epidermolysis bullosa simplex | ClinicalTrials.gov |
Causes
Epidermolysis bullosa simplex (EBS) is a rare genetic disorder that is caused by mutations in genes associated with the production of proteins involved in the structure and function of the skin. EBS is a type of epidermolysis bullosa (EB), a group of genetic disorders that cause blistering and skin fragility.
EBS can be inherited in an autosomal dominant or autosomal recessive manner, depending on the specific types of mutations in the genes involved. In autosomal dominant EBS, a mutation in one copy of the gene is sufficient to cause the disorder. In autosomal recessive EBS, both copies of the gene must be mutated for the disorder to manifest.
There are several types of EBS, each with their own associated genes and inheritance patterns. Some of the known genes associated with EBS include KRT5, KRT14, PLEC, and DSP. These genes code for different proteins involved in maintaining the integrity of the skin and its adhesion to other tissues.
The exact mechanisms by which mutations in these genes lead to the signs and symptoms of EBS are still being studied. However, it is believed that the mutations disrupt the structure and function of the skin, resulting in the formation of blisters and skin fragility.
EBS can also be associated with additional conditions, such as nail and hair abnormalities, abnormal tooth enamel, and growth defects. The specific signs and symptoms can vary depending on the type of EBS.
Diagnosis of EBS is usually made based on the clinical signs and symptoms observed in the patient, as well as genetic testing to identify the specific gene mutations. Testing can be done through specialized genetic testing labs or through research studies.
Currently, there is no cure for EBS, but treatment focuses on managing the symptoms and preventing complications. This may include wound care, pain management, and the use of protective measures to prevent further skin damage.
For more information on EBS, genetic disorders, and related resources, you can visit the following websites:
- OMIM – Online Mendelian Inheritance in Man (www.omim.org)
- Genetics Home Reference (ghr.nlm.nih.gov)
- ClinicalTrials.gov – a database of clinical trials (clinicaltrials.gov)
- PubMed – a database of scientific articles (www.ncbi.nlm.nih.gov/pubmed)
- DEBRA International – an advocacy and support organization for EB patients (www.debra-international.org)
Learn more about the genes associated with Epidermolysis bullosa simplex
Epidermolysis bullosa simplex (EBS) is a group of rare genetic disorders that affect the skin. It is characterized by the formation of blisters in response to minor trauma or friction. EBS is caused by mutations in genes that are involved in the production and structure of the skin’s outer layer, called the epidermis.
EBS can be classified into several types based on the frequency and severity of symptoms. The most common type is EBS simplex, which accounts for about 70% of all EBS cases. Other types include junctional EBS and dystrophic EBS, which have been associated with different genes.
One of the genes associated with EBS is called the KRT5 gene. Mutations in this gene cause EBS simplex, which is also known as EBS-K5. Another gene associated with EBS is the KRT14 gene, which is responsible for a more severe form of EBS called EBS-K14. Mutations in these genes disrupt the structure of keratin proteins, which are important for the strength and integrity of the skin.
Genetic testing can be done to confirm a diagnosis of EBS and identify the specific gene mutation. This can help with prognosis, treatment planning, and genetic counseling. Research on the genes associated with EBS is ongoing, with new discoveries being made regularly.
There are several resources available for patients and their families to learn more about EBS and the genes associated with the condition. The National Epidermolysis Bullosa Registry, managed by the Epidermolysis Bullosa Clinical Research Consortium, collects information on patients with EBS and other related skin disorders. The registry aims to improve clinical care and support research on EBS and its associated genes.
Additional information about the genes associated with EBS can be found in scientific articles and research papers. PubMed and OMIM are databases that provide access to a wealth of scientific literature on genetics and inherited diseases, including EBS. The EBS Gene Catalog, maintained by the Department of Dermatology and Cutaneous Surgery at the University of Miami Miller School of Medicine, is a comprehensive resource for information on the genes associated with EBS.
Support and advocacy organizations for EBS, such as the Dystrophic Epidermolysis Bullosa Research Association (DEBRA), also provide resources and support for patients and their families. These organizations often have information on the latest research, clinical trials, and treatment options for EBS.
In conclusion, learning more about the genes associated with Epidermolysis bullosa simplex can provide valuable insights into the causes and mechanisms of this rare condition. Understanding the genes involved in EBS can lead to improved diagnosis, treatment, and support for patients and their families.
Inheritance
Epidermolysis bullosa simplex (EBS) is a group of genetic disorders characterized by fragile skin that forms blisters with minimal trauma. This condition is caused by mutations in certain genes that play a role in the structure and integrity of the skin.
EBS has an autosomal dominant inheritance pattern, meaning that a person with one copy of the mutated gene will develop the condition. However, there are also rare cases where EBS is inherited in an autosomal recessive manner, requiring two copies of the mutated gene for the disease to manifest.
EBS is classified into several types based on the specific gene that is affected. The most common type, called EBS-K, is caused by mutations in the KRT5 or KRT14 genes. Additional types include EBS-DM (formerly EBS-Ogna), EBS-koebner, and EBS-mitis.
The signs and features of EBS can vary depending on the specific type. However, common symptoms include blisters that occur on the skin, particularly the palms, soles, and nails. The blisters may be painful and can lead to scarring. Some types of EBS may also affect the mucous membranes, causing blisters in the mouth and other regions.
Research studies and clinical trials are ongoing to learn more about the inheritance and causes of EBS. This information can aid in genetic testing and counseling for individuals and families affected by the condition. There are also resources available, such as the Epidermolysis Bullosa Simplex Catalog, OMIM (Online Mendelian Inheritance in Man), PubMed articles, and clinicaltrialsgov, for additional information and references on this rare disorder.
Support and advocacy organizations, such as the Dystrophic Epidermolysis Bullosa Research Association (DEBRA) and the Epidermolysis Bullosa Medical Research Foundation (EBMRF), provide resources and information for patients and families affected by EBS. These organizations also support research efforts and provide funding for scientific studies aimed at finding better treatments for this condition.
Other Names for This Condition
Epidermolysis bullosa simplex is also known by several other names, including:
- EB simplex
- Bullosa simplex
- Epidermolysis bullosa, generalized
- Epidermolysis bullosa, omim #131800
- Epidermolysis bullosa, recessive
These names all refer to the same condition, which is a rare genetic disorder that affects the skin.**
Epidermolysis bullosa simplex type support website has more information about this condition and provides resources for patients and their families, including articles, additional cases, and references to scientific research studies:
Epidermolysis Bullosa, Generalized (EB-GENE)
Epidermolysis Bullosa Simplex Type Support Website has information about the genetic causes, signs and symptoms, testing, and treatment options for this condition. The website also provides additional resources for patients and their families, including articles, research studies, and support groups: https://www.vade-genetics.org
GeneReviews
GeneReviews is a comprehensive resource for information about genetic disorders. They provide detailed information and resources for patients and their families, including the latest research, clinical trials, and guidelines for diagnosis and treatment. The GeneReviews page on epidermolysis bullosa simplex includes information on the different types of this condition and their associated genes: https://www.ncbi.nlm.nih.gov/books/NBK1100/
Epidermolysis Bullosa Simplex Research Center
The Epidermolysis Bullosa Simplex Research Center is dedicated to studying this condition and finding new treatments and therapies. Their website provides information about ongoing research studies, clinical trials, and resources for patients and their families. They also have a database of patient cases and features that may be helpful for healthcare providers and researchers: https://www.ebrcenter.org
ClinicalTrials.gov
ClinicalTrials.gov is a database of clinical trials that are currently enrolling patients. It provides information about ongoing research studies and trials for epidermolysis bullosa simplex and other related conditions. Patients and their families can search for trials in their area and learn more about how to participate: https://clinicaltrialsgov
In addition to these resources, patients and their families may find it helpful to connect with advocacy organizations for further support and information. Some examples of advocacy organizations for epidermolysis bullosa simplex include:
- Epidermolysis Bullosa Medical Research Foundation: https://www.ebkids.org
- DebRA International: https://www.debra-international.org
- Epidermolysis Bullosa Support Association: https://www.ebsanbs.com
Additional Information Resources
The following resources provide additional information about Epidermolysis bullosa simplex:
- GeneReviews: This website provides in-depth genetic information about Epidermolysis bullosa simplex, including information about the various types and associated genes. Learn more
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genes, genetic disorders, and clinical features associated with Epidermolysis bullosa simplex. Learn more
- PubMed: PubMed is a database of scientific articles and research studies. Search for “Epidermolysis bullosa simplex” to find studies, case reports, and other scientific resources on this condition. Search on PubMed
- NIH Clinical Trials: The National Institutes of Health (NIH) maintains a database of clinical trials, including those studying Epidermolysis bullosa simplex. Search for clinical trials on clinicaltrials.gov
- DEBRA International: DEBRA International is a global network of patient support and advocacy organizations for Epidermolysis bullosa and other blistering disorders. They provide resources, support, and information for patients and their families. Visit DEBRA International
- NIAMS Information Clearinghouse: The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) provides information about Epidermolysis bullosa simplex, its causes, symptoms, and treatment options. Learn more
These resources can provide more information about Epidermolysis bullosa simplex, its different types and associated genes, and available support and advocacy organizations for patients and their families.
Genetic Testing Information
Genetic testing is a valuable tool for diagnosing and managing diseases such as Epidermolysis bullosa simplex (EBS). EBS is a group of genetic disorders that affect the skin, causing blisters to form on the palms and soles and other areas of the body.
Formerly called “hereditary epidermolysis bullosa,” EBS is now classified into several subtypes based on the specific gene that causes the condition. The most common subtype is EBS simplex, which is associated with mutations in the KRT5 or KRT14 genes.
Genetic testing can help determine the specific subtype of EBS a patient has and identify the specific gene mutation causing the symptoms. This information is essential for understanding the inheritance pattern and providing accurate genetic counseling for patients and their families.
Additional resources for genetic testing and counseling can be found at the National Epidermolysis Bullosa Registry and Resource Center (NEBRC), which provides comprehensive information about EBS and other related disorders.
In some cases, EBS may be inherited in an autosomal recessive manner, meaning that the patient must inherit a copy of the mutated gene from both parents to develop the condition. Genetic testing can help identify carriers of the condition who may not have any symptoms.
Research studies are ongoing to learn more about the genes and mechanisms involved in EBS. Scientific articles and studies can be found in resources such as PubMed and the Online Mendelian Inheritance in Man (OMIM) database.
Clinical trials may also be available for patients with EBS. Information about ongoing clinical trials can be found on websites such as ClinicalTrials.gov.
Genetic testing can also help differentiate EBS from other similar skin diseases, such as epidermolysis bullosa dystrophica and epidermolysis bullosa junctionalis. These diseases have different signs, symptoms, and genetic causes.
In summary, genetic testing is crucial for diagnosing and managing EBS and related disorders. It can provide valuable information about the specific gene mutations causing the condition, the inheritance pattern, and additional resources for support and research.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) to help patients, families, healthcare professionals, and researchers learn about genetic and rare diseases. GARD provides information on epidermolysis bullosa simplex and other rare diseases.
GARD offers information on the causes, signs and symptoms, associated features, and inheritance of epidermolysis bullosa simplex. It also provides information on the types of epidermolysis bullosa simplex, including the more common localized type and the less common generalized type. GARD can help individuals find resources for genetic testing, clinical trials, advocacy groups, and support for epidermolysis bullosa simplex.
Epidermolysis bullosa simplex is a rare genetic condition characterized by the formation of blisters on the skin, often on the palms, soles, and nails. The condition is caused by mutations in specific genes, including the KRT5 and KRT14 genes. These genes provide instructions for making proteins that help maintain the structure and strength of the skin. Mutations in these genes result in fragile skin that is prone to blistering and tearing.
Evidence suggests that epidermolysis bullosa simplex has an autosomal dominant inheritance pattern, meaning that a mutation in one copy of the gene is sufficient to cause the condition. However, in some cases, the condition may have an autosomal recessive inheritance pattern, where two copies of the gene must be mutated for the condition to occur. GARD provides more information on the inheritance patterns of epidermolysis bullosa simplex.
Research is ongoing to learn more about the causes and treatment of epidermolysis bullosa simplex. Scientific studies have identified other genes associated with the condition, such as the PLEC gene. Additionally, GARD provides references to articles and studies from PubMed and OMIM, which offer more information on the genetics and clinical features of epidermolysis bullosa simplex.
To learn more about epidermolysis bullosa simplex and other rare diseases, visit the Genetic and Rare Diseases Information Center (GARD) website.
Patient Support and Advocacy Resources
Patients and their families dealing with Epidermolysis Bullosa Simplex (EBS) can find support, information, and advocacy resources through various organizations, online platforms, and scientific centers. These resources aim to provide education, emotional support, and connect individuals to research studies and clinical trials. Here are some recommended patient support and advocacy resources:
- Epidermolysis Bullosa Medical Research Foundation (EBMRF): EBMRF is a nonprofit organization dedicated to funding research and providing support for families affected by EBS and other epidermolysis bullosa (EB) disorders. Their website offers valuable resources, treatment options, and information about ongoing clinical trials.
- DebRA International: DebRA is a global network of patient support groups that provides assistance to individuals with all forms of EB. They offer resources, patient support programs, and educational materials to help improve the quality of life for those living with EBS and other EB types.
- Genetic and Rare Diseases (GARD) Information Center: GARD is a government-sponsored resource that offers information on rare diseases, including EBS. Their website provides detailed information about the disease, its signs and symptoms, diagnosis, and available treatment options. They also offer resources for locating specialists and clinical trials.
- Online Communities: Various online communities and forums provide a platform for connecting with other individuals and families dealing with EBS. These communities can offer emotional support, share personal experiences, and provide a sense of belonging. Some popular online communities include the “EB Support Group” on Facebook and the “EB Simplex Research Forum” on Inspire.
- Scientific Publications: Scientific articles, studies, and research papers can provide in-depth information about EBS and its associated genes. PubMed and OMIM (Online Mendelian Inheritance in Man) are reliable resources for accessing scientific literature related to EBS and other rare genetic disorders.
- Genetic Testing and Counseling: Genetic testing can help confirm the diagnosis of EBS and provide information about its specific type and inheritance pattern. Genetic counseling services can provide families with information about the genetic cause of the disease, recurrence risks, and family planning options.
It is important for individuals and families affected by EBS to utilize these resources to learn more about the disease, connect with others facing similar challenges, and stay informed about the latest advancements in research and treatment options.
Research Studies from ClinicalTrialsgov
Epidermolysis bullosa simplex (EBS), also called epidermolysis bullosa simplex superficialis (EBSS), is a rare genetic disorder that causes blistering of the skin. The condition typically affects the palms and soles of the feet, but can also occur in other areas of the body. EBS is characterized by fragile skin that is prone to blistering, especially with friction or trauma.
Research studies from ClinicalTrials.gov provide valuable information on the genetic cause, signs, and features of EBS. These studies aim to learn more about the condition and identify potential treatments.
One study listed on ClinicalTrials.gov is investigating the frequency and inheritance patterns of EBS and other related disorders. This study aims to catalog cases of EBS and gather genetic information to better understand the condition. Information from this study may help identify new genes involved in EBS and improve genetic testing for the condition.
Advocacy organizations and support groups for EBS, such as the Dystrophic Epidermolysis Bullosa Research Association (DEBRA), provide additional resources and information. These organizations can help patients and their families learn more about the condition, connect with other individuals affected by EBS, and find support and resources.
Scientific articles and references related to EBS can also be found on PubMed. These articles provide more in-depth information on the genetics, causes, and clinical features of EBS, as well as information on other types of epidermolysis bullosa.
The Online Mendelian Inheritance in Man (OMIM) catalog, a comprehensive database of genes and inherited diseases, has information on EBS and other related disorders. This resource can be useful for clinicians and researchers looking for additional information on the condition.
In conclusion, research studies from ClinicalTrials.gov, along with resources and support from advocacy organizations, can provide valuable information for patients and clinicians working with individuals affected by EBS. Further research and clinical trials are needed to improve understanding and treatment options for this rare genetic condition.
Catalog of Genes and Diseases from OMIM
Epidermolysis bullosa simplex (EBS), also known as the “uitto type,” is a rare genetic skin condition characterized by the formation of blisters on the skin. EBS is caused by mutations in genes associated with the production of proteins that are important for the structural integrity of the skin.
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides valuable resources for clinicians, researchers, and patients to learn about the signs, testing, inheritance, and more for various rare genetic diseases, including EBS.
In the case of EBS, OMIM provides information on the different types of EBS, which include various subtypes based on their clinical features and genetic causes. The genes associated with EBS include those encoding for keratins, which are structural proteins in the skin.
OMIM also includes references to scientific articles and studies related to EBS. This allows researchers and clinicians to stay updated on the latest research and advancements in the understanding of EBS.
Patients and their families can also find support and advocacy resources through OMIM. The catalog provides information about patient support groups, clinical trials, and other resources that can help individuals with EBS navigate their condition and access appropriate care.
Overall, OMIM serves as a valuable catalog of genes and diseases, including EBS. It provides a centralized source of information for scientific research, clinical practice, and patient support, making it a useful resource for the EBS community.
Scientific Articles on PubMed
Epidermolysis bullosa simplex (EBS) is a rare genetic condition that causes generalized blistering of the skin. This condition is associated with mutations in genes encoding keratins, which are structural proteins important for skin and nail growth.
There are three main types of EBS: EBS localized (formerly called Weber-Cockayne), EBS generalized intermediate (formerly called Koebner), and EBS generalized severe (formerly called Dowling-Meara). Each type has different features and inheritance patterns.
Scientific studies on EBS have been published on PubMed, a widely used resource for accessing biomedical literature. These articles provide valuable information about the causes, associated diseases, and clinical features of EBS.
Causes and Inheritance
EBS is primarily caused by mutations in the genes KRT5 and KRT14, which encode keratin proteins. These mutations disrupt the normal structure and function of the keratin filaments, leading to skin fragility and blister formation. EBS is inherited in an autosomal dominant or autosomal recessive manner, depending on the type of mutation and the specific gene involved.
Clinical Features and Additional Signs
The main symptom of EBS is the presence of blisters on the skin and/or nail abnormalities. The severity and frequency of blistering can vary widely among individuals with EBS. In some cases, EBS may also affect the mucous membranes, causing blistering in the mouth, throat, or other areas.
Additional signs of EBS can include thickening of the skin on the palms and soles, called hyperkeratosis. Other skin disorders, such as eczema or psoriasis, may also be present in individuals with EBS.
Resources for Patients and Advocacy
For individuals and families affected by EBS, there are several resources available for support and information. The Dystrophic Epidermolysis Bullosa Research Association (DebRA) is a patient advocacy organization that provides resources, support networks, and education for individuals with EBS and their families.
More information about EBS, including patient resources and advocacy groups, can be found on the DebRA website and other online platforms. These resources can help individuals and families navigate the challenges of living with EBS and connect with others who have similar experiences.
Research and Clinical Trials
Ongoing research on EBS aims to better understand the underlying genetic and molecular mechanisms of the condition. This research may lead to the development of new treatments and interventions for EBS in the future.
In addition to research studies, there are also clinical trials being conducted to evaluate potential treatments for EBS. ClinicalTrials.gov is a registry of clinical trials, including those for EBS, where interested individuals can find information about ongoing trials and opportunities to participate.
References and Additional Information
To learn more about EBS and access scientific articles on the topic, PubMed and other databases can be valuable resources. OMIM (Online Mendelian Inheritance in Man) is another online catalog of genetic disorders that provides detailed information about EBS and other rare genetic conditions.
By exploring these resources and reading scientific articles, individuals and healthcare professionals can gain a deeper understanding of EBS and stay up to date on the latest research and advancements in the field.
References
1. Blistering Disorders: Epidermolysis Bullosa. (2019). In Cleveland Clinic Center for Continuing Education. Retrieved from https://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/dermatology/blistering-disorders-epidermolysis-bullosa/
2. Epidermolysis bullosa. (n.d.). In Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/10439/epidermolysis-bullosa
3. Epidermolysis bullosa simplex. (n.d.). In Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex
4. Hirsch, T., Rothoeft, T., & Teig, N. et al. (2017). Regeneration of the entire human epidermis using transgenic stem cells. Nature, 551(7680), 327-332. DOI: 10.1038/nature24487
5. Inherited epidermolysis bullosa. (n.d.). In DermNet NZ. Retrieved from https://dermnetnz.org/topics/inherited-epidermolysis-bullosa/
6. Koster, J., & van den Heuvel, L. (2004). Epidermolysis bullosa simplex. Seminars in Dermatology, 23(1), 2-6. DOI: 10.1016/j.semderm.2003.10.012
7. McLean, W. (2017). Epidermolysis Bullosa Simplex. In R.J. Pagon, M.P. Adam, H.H. Ardinger, et al. (eds.), GeneReviews®. Seattle (WA): University of Washington, Seattle. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1104/
8. PubMed. (n.d.). In National Center for Biotechnology Information. Retrieved from https://pubmed.ncbi.nlm.nih.gov/
9. Research Studies from the National Epidermolysis Bullosa Registry (NEBR). (n.d.). In ClinicalTrials.gov. Retrieved from https://www.clinicaltrials.gov/ct2/results?term=epidermolysis+bullosa+Search=Apply
10. Uitto, J., Richard, G., McGrath, J., & Shimizu, H. et al. (2004). Progress in Epidermolysis Bullosa Research: Toward Treatment and Cure. Journal of Investigative Dermatology Symposium Proceedings, 9(1), 3-10. DOI: 10.1046/j.1523-1747.2003.12361.x