Rare Neurology News

Disease Profile

Epidermolysis bullosa simplex, generalized

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Infancy

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ICD-10

Q81.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

EBS, generalized; Generalized EBS; Epidermolysis bullosa simplex, Koebner type;

Categories

Skin Diseases

Summary

Epidermolysis bullosa simplex (EBS), generalized is a form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be fragile and blister easily. This disorder usually presents at birth or during infancy and results in widespread blisters over the body's surface.[1][2][3] Though it is not a common feature of this type, scarring may occur. There may also be mild involvement of mucous membranes, fingernails and toenails, and localized thickening of the skin on the soles of the feet and the palms of the hands that increases with age.[3] There are two major subtypes of this condition and 17 minor subtypes. The four most common types of epidermolysis bullosa simplex are EBS localized, EBS generalized intermediate, EBS with mottled pigmentation and EBS generalized severe. These four common types are caused by mutations in the EXPH5KRT5KRT14, and TGM5 genes.[3] This condition is usually inherited in an autosomal dominant or autosomal recessive fashion.[2]. These conditions are diagnosed based on the symptoms and by genetic testing. Treatment is focused on managing the symptoms. The symptoms of EBS tend to get better with age. The long-term outlook for people with EBS depends on how well the skin symptoms can be managed.[4]

Symptoms

Epidermolysis bullosa simplex, generalized is associated with widespread blisters that appear at birth or in early infancy.[1][2][3] Blisters occur in areas where skin rubs together, or after minor injuries. Other features of EBS include nail involvement, thickening of the skin on the palms of the hands and soles of the feet, and small bump-like cysts known as milia.[2] The symptoms of this condition can be very different from person to person, ranging from mild blistering of the hands and feet to blistering that occurs all over the body that can be fatal.

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Milia
Milk spot
0001056
Nail dysplasia
Atypical nail growth
0002164
Nail dystrophy
Poor nail formation
0008404
Percent of people who have these symptoms is not available through HPO
Abnormal blistering of the skin
Blistering, generalized
Blisters

[ more ]

0008066
Autosomal dominant inheritance
0000006
Oral mucosal blisters
Blisters of mouth
0200097
Palmoplantar hyperkeratosis
Thickening of the outer layer of the skin of the palms and soles
0000972

Cause

The four most common types of epidermolysis bullosa simplex generalized are caused by genetic changes in one of four different genes, EXPH5, TGM5, KRT5 or KRT14.[3] These genes all make proteins that are involved in the production or maintenance of the skin.

Diagnosis

Epidermolysis bullosa simplex (EBS) generalized is diagnosed based on the characteristic symptoms including fragile skin and blisters that are caused by minor injury. Genetic testing can also aid in the diagnosis.[3]

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    There is no cure for epidermolysis bullosa simplex. Treatment is directed towards the symptoms and is largely supportive. Many complications can be lessened or avoided through early intervention. Individuals with milder forms of the disease have minimal symptoms and may require little or no treatment. For individuals with more severe forms, treatment involves specialized wound care, preventing infection, pain management, nutrition, and physical and occupational therapy to help protect the skin against trauma. Sometimes surgery is necessary. Psychological support for the patient and other family members can also be helpful.[3] [5]

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Social Networking Websites

      • RareConnect is an online social network for patients and families to connect with one another and share their experience living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders). Click on the link above to view the community for Epidermolysis bullosa.

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

        • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
        • Genetics Home Reference (GHR) contains information on Epidermolysis bullosa simplex, generalized. This website is maintained by the National Library of Medicine.
        • The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.
        • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

          In-Depth Information

          • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Epidermolysis bullosa simplex, generalized. Click on the link to view a sample search on this topic.

            References

            1. Epidermolysis bullosa simplex. Genetics Home Reference (GHR). May 2013; https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex.
            2. Epidermolysis bullosa. National Organization for Rare Disorders (NORD). Updated 2013; https://rarediseases.org/rare-diseases/epidermolysis-bullosa/.
            3. Pfendner EG and Bruckner AL. Epidermolysis bullosa simplex. GeneReviews. Updated Oct 2016; https://www.ncbi.nlm.nih.gov/books/NBK1369/.
            4. Epidermolysis bullosa simplex, generalized. Online Mendelian Inheritance in Man (OMIM). Updated Nov 2016; https://www.omim.org/entry/131900.
            5. Cohn H, Teng JM. Advancement in management of epidermolysis bullosa. Curr Opin Pediatr. Aug 2016; 28(4):507-516. https://www.ncbi.nlm.nih.gov/pubmed/27386970.

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