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Disease Profile

Epidermolysis bullosa simplex

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.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

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)

Epidermolysis bullosa intraepidermic

Categories

Skin Diseases

Summary

Epidermolysis bullosa simplex (EBS) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. EBS is classified into two groups of subtypes by the layer of skin at which the peeling originates. The basal subtypes cause skin peeling at the lower layers of the epidermis. The most common basal subtypes include EBS localized, Dowling Meara EBS, Generalized other EBS and EBS with muscular dystrophy. More rarely seen basal subtypes include EBS with mottled pigmentation, EBS with pyloic atreseia, EBS Ogna, and EBS circinate migratory.The suprabasal subtypes cause skin peeling at the upper layers of the epidermis and include the rare forms known as Lethal acantolythic EB, Plakophilin deficiency, and EBS superficialis (EBSS). [1] Symptoms of EBS range from mild in the Weber-Cockayne type to severe with blistering that is present at birth or after. Milder phenotypes of EBS have blistering confined to the limbs, whereas in the most severe Dowling Meara type, blisters may also form in the mouth. All of the types are typically caused by mutations in the KRT5 and KRT14 genes. They are usually inherited in an autosomal dominant pattern, but autosomal recessive inheritance has occurred in rare cases.[2913] Treatment plans differ depending on severity but typically focus on preventing formation of blisters, caring for blistered skin, and treating infection.[2]

Symptoms

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
80%-99% of people have these symptoms
Abnormal blistering of the skin
Blistering, generalized
Blisters

[ more ]

0008066
30%-79% of people have these symptoms
Abnormality of skin pigmentation
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly

[ more ]

0001000
Aplasia/Hypoplasia of the nails
Absent/small nails
Absent/underdeveloped nails

[ more ]

0008386
Dystrophic fingernails
Poor fingernail formation
0008391
Dystrophic toenail
Poor toenail formation
0001810
Failure to thrive in infancy
Faltering weight in infancy
Weight faltering in infancy

[ more ]

0001531
Palmoplantar keratoderma
Thickening of palms and soles
0000982
Pyloric stenosis
0002021
Skin ulcer
Open skin sore
0200042
5%-29% of people have these symptoms
Atrophic scars
Sunken or indented skin due to damage
0001075
Atypical scarring of skin
Atypical scarring
0000987
Hyperkeratosis
0000962
Milia
Milk spot
0001056
Neoplasm
0002664
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Autosomal recessive inheritance
0000007
Congenital onset
Symptoms present at birth
0003577
Discrete 2 to 5-mm hyperand hypopigmented macules
0007494
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth

[ more ]

0001510
Mottled pigmentation of the trunk and proximal extremities
0007438
Nail dysplasia
Atypical nail growth
0002164
Nail dystrophy
Poor nail formation
0008404
Neonatal onset
0003623
Onychogryposis
Thick nail
Thickened nails

[ more ]

0001805
Oral mucosal blisters
Blisters of mouth
0200097
Palmoplantar blistering
0007446
Palmoplantar hyperkeratosis
Thickening of the outer layer of the skin of the palms and soles
0000972
Punctate palmoplantar hyperkeratosis
0007530
Ridged nail
Grooved nails
Nail ridging

[ more ]

0001807
Variable expressivity
0003828

Treatment

There is no cure for any of the types of epidermolysis bullosa simplex (EBS). Treatment of EBS typically involves supportive care to protect the skin from blistering, and the use of dressings that will not further damage the skin and will promote healing. Prevention of blisters may involve applying aluminum chloride to palms and soles to reduce blister formation; cyproheptadine may be used to reduce blistering in some individuals with the Dowling-Meara type of EBS. Keratolytics and softening agents for hyperkeratosis (thickening of the skin) of the palms and soles may prevent tissue from thickening and cracking. Prevention of secondary complications (such as infection of blisters) may involve treatment with topical and/or systemic antibiotics or silver-impregnated dressings or gels. Appropriate footwear and physical therapy may preserve ambulation in children with difficulty walking because of blistering and hyperkeratosis. Surveillance is recommended for infection and proper wound healing. Avoiding excessive heat, poorly fitting or coarse-textured clothing and footwear, and activities that traumatize the skin is typically recommended.[5] Other treatments under investigation for epidermolysis bullosa include protein therapy and gene therapy.[6]

Management Guidelines

  • DebRA International has developed clinical practice guidelines for epidermolysis bullosa which provide recommendations for clinical care. These clinical guidelines are for patients as well as healthcare professionals.

    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 Genetics contains information on Epidermolysis bullosa simplex. 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. 
            https://www.ncbi.nlm.nih.gov/omim/131800
            https://www.ncbi.nlm.nih.gov/omim/131900
            https://www.ncbi.nlm.nih.gov/omim/131760
            https://www.ncbi.nlm.nih.gov/omim/131960
            https://www.ncbi.nlm.nih.gov/omim/601001
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Epidermolysis bullosa simplex. Click on the link to view a sample search on this topic.

            References

            1. Fine JD. Orphanet Journal of Rare Diseases (OJRD). May 2010; https://www.ojrd.com/content/5/1/12. Accessed 7/6/2011.
            2. Epidermolysis Bullosa. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). 2013; https://www.niams.nih.gov/Health_Info/Epidermolysis_Bullosa/default.asp#6.
            3. Epidermolysis bullosa simplex. Genetics Home Reference (GHR). May 2013; https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex.
            4. EB Simplex: Koebner Subtype of EB Simplex. Dystrophic Epidermolysis Bullosa Research Association of America (DebRA). https://www.debra.org/simplex#koebner. Accessed 6/10/2015.
            5. Ellen G Pfendner and Anna L Bruckner. Epidemolysis Bullosa Simplex. GeneReviews. August 11, 2008; https://www.ncbi.nlm.nih.gov/books/NBK1369/. Accessed 1/19/2011.
            6. Kevin Berman. Episdermolysis Bullosa. MedlinePlus. October 31, 2008; https://www.nlm.nih.gov/medlineplus/ency/article/001457.htm. Accessed 1/19/2011.

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