Epidermolysis bullosa simplex

Rare Pediatrics News

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Rare Pediatrics News

Disease Profile

1-9 / 100 000

US Estimated

Europe Estimated

Age of onset

Infancy

ICD-10

Q81.0

Inheritance

Epidermolysis bullosa simplex (EBS) is usually inherited in an autosomal dominant pattern, which means one copy of the altered (mutated) gene in each cell is sufficient to cause the condition. The mutated gene may be inherited from an affected parent, or it may occur for the first time in the affected individual.^[3]^[4] When an individual affected with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene and be affected.

In rare cases, EBS is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means the condition results when both copies of the gene in each cell have a mutation (one copy inherited from each parent). The parents of an individual with an autosomal recessive condition typically each carry one copy of the mutated gene and are referred to as carriers. Carriers are typically unaffected and do not have signs or symptoms of the condition.^[3] When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier, and a 25% risk to not have the condition and not be a carrier.

Affected individuals or family members who are unsure of the inheritance pattern of EBS in their family and are interested in learning more about this should consult with a genetics professional.

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

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.

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.

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

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.

Not applicable

Other names (AKA)

Epidermolysis bullosa intraepidermic

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

Do you have updated information on this disease? We want to hear from you.

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.

Related diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Diagnosis is usually straightforward with little need for extensive differential diagnosis. However, in the neonatal period, in utero herpes simplex infection may be considered, especially if there is no family history of blistering disease or if clinical findings are atypical for EB. The differential diagnosis in neonates and small children may include congenital aplasia cutis, neonatal pemphigus, neonatal herpes gestationis, staphylococcal scalded skin syndrome, as well as incontinentia pigmenti, epidermolytic ichthyosis, linear IgA dermatosis, bullous pemphigoid, and bullous impetigo (see these terms). Visit the Orphanet disease page for more information.

Conditions with similar signs and symptoms from Orphanet

Diagnosis is usually straightforward with little need for extensive differential diagnosis. However, in the neonatal period, in utero herpes simplex infection may be considered, especially if there is no family history of blistering disease or if clinical findings are atypical for EB. The differential diagnosis in neonates and small children may include congenital aplasia cutis, neonatal pemphigus, neonatal herpes gestationis, staphylococcal scalded skin syndrome, as well as incontinentia pigmenti, epidermolytic ichthyosis, linear IgA dermatosis, bullous pemphigoid, and bullous impetigo (see these terms).

Visit the Orphanet disease page for more information.

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

DebRA International
Am Heumarkt 27/3
1030 Vienna
Austria
Telephone: +43 1 876 40 30-0
Fax: +43 1 876 40 30-30
E-mail: office@debra-international.org
Website: https://www.debra-international.org/
Dystrophic Epidermolysis Bullosa Research Association of America (DEBRA of America)
75 Broad Street
Suite 300
New York, NY 10004
Toll-free: 855-CURE-4-EB
Telephone: 212-868-1573
Fax: 212-868-9296
E-mail: staff@debra.org
Website: https://www.debra.org
Epidermolysis Bullosa Center
The EB Center
Cincinnati Children's Hospital Medical Center
MLD 3004
3333 Burnet Avenue
Cincinnati, OH 45229-3039
Telephone: 513-636-2009
E-mail: ebcenter@cchmc.org
Website: https://www.cincinnatichildrens.org/service/e/epidermolysis-bullosa
Epidermolysis Bullosa Medical Research Foundation (EBMRF)
2757 Anchor Ave
Los Angeles, CA 90064
Telephone: +1-310-205-5119
E-mail: a.pett@bep-la.com
Website: https://ebmrf.org/
Genetic Skin Disease Center
Stanford Medical Dermatology Clinic
Stanford Medicine Outpatient Center
450 Broadway
Pavilion B, 4th Floor
Redwood City, CA 94063
Telephone: 650-723-6316
Fax: 650-725-7711
Website: https://dermatology.stanford.edu/contact/

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

Fine JD. Orphanet Journal of Rare Diseases (OJRD). May 2010; https://www.ojrd.com/content/5/1/12. Accessed 7/6/2011.
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.
Epidermolysis bullosa simplex. Genetics Home Reference (GHR). May 2013; https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex.
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.
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.
Kevin Berman. Episdermolysis Bullosa. MedlinePlus. October 31, 2008; https://www.nlm.nih.gov/medlineplus/ency/article/001457.htm. Accessed 1/19/2011.

Rare Pediatrics News

Rare Pediatrics News

Rare Pediatrics News

Infancy

Q81.0

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

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.

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.

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

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.

Not applicable

Other names (AKA)

Categories

Summary

Symptoms

Treatment

Management Guidelines

Related diseases

Organizations

Organizations Supporting this Disease

Social Networking Websites

Learn more

Where to Start

In-Depth Information

References

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.

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