Epidermolysis bullosa acquisita
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.
Age of Onset
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.
Other Names (AKA)
EB acquisita; EBA; Acquired epidermolysis bullosa
Epidermolysis bullosa acquisita (EBA) is a rare autoimmune disorder that causes the skin to blister in response to minor injury. Common areas of blistering include the hands, feet, knees, elbows, and buttocks. It can also affect the mouth, nose, and eyes. Some affected people have other health problems such as Crohn's disease, systemic lupus erythematosus, amyloidosis, or multiple myeloma. EBA is not
Non-inflammatory or mildly inflammatory EBA affecting only trauma-prone skin (the "classic" form) may cause:
- tense, bloodor pus-filled blisters, mostly on the hands, knees, knuckles, elbows and ankles
- mucous-membrane blisters that rupture easily
- healing with significant scarring and small white spots (milia)
Generalized inflammatory EBA may cause:
- widespread blisters that are not localized to trauma-prone sites
- generalized redness and itching
- healing with minimal scarring
- blisters on various mucous membranes
- significant scarring and dysfunction
The features of the condition may change during the course of the disease or may represent two forms at the same time.
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||
|80%-99% of people have these symptoms|
|Abnormal blistering of the skin||
[ more ]
|Abnormal hair morphology||
Abnormality of the hair
[ more ]
|30%-79% of people have these symptoms|
|5%-29% of people have these symptoms|
Pain in stomach
[ more ]
|Atypical scarring of skin||
|Hyperpigmentation of the skin||
Patchy darkened skin
|Inflammation of the large intestine||0002037|
Poor nail formation
[ more ]
EBA affecting several family members has been reported, suggesting a genetic component may be involved in some cases. Rarely, people with lupus, a systemic
- 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 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
The differential diagnosis should include other subepidermal, autoimmune bullous diseases.
Visit the Orphanet disease page for more information.
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.
- Visit the following Facebook groups related to Epidermolysis bullosa acquisita:
Epidermolysis Bullosa Acquisita (EBAers)
- 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.
American Autoimmune Related Diseases Association (AARDA)
19176 Hall Road, Suite 130
Clinton Township, MI 48038
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.
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Merck Manual for health care professionals provides information on Epidermolysis bullosa acquisita.
- 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.
- 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 acquisita. Click on the link to view a sample search on this topic.
- Epidermolysis bullosa acquisita. DermNet NZ. December 29, 2013; https://www.dermnetnz.org/immune/epidermolysis-bullosa-acquisita.html. Accessed 2/27/2014.
- Gupta R, Woodley DT, Chen M. Epidermolysis bullosa acquisita. Clin Dermatol. January-February, 2012; 30(1):60-69. Accessed 3/3/2014.
- Jaggi Rao. Epidermolysis bullosa acquisita. Medscape Reference. April 5, 2013; https://emedicine.medscape.com/article/1063083-overview. Accessed 3/3/2014.
- Noe MH, Chen M, Woodley DT, Fairley JA. Familial epidermolysis bullosa acquisita. Dermatol Online J. December 15, 2008; 14(12):2. Accessed 3/3/2014.
- Croom, Daniel. Epidermolysis Bullosa Acquisita. Medscape. April 29, 2016; https://emedicine.medscape.com/article/1063083-overview.