Rare Rheumatology News

Disease Profile

Epidermolysis bullosa acquisita

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

L12.3

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.

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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)

EB acquisita; EBA; Acquired epidermolysis bullosa

Categories

Skin Diseases

Summary

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 inherited and usually occurs in adulthood. Treatment aims to protect the skin, stop the formation of blisters, and promote healing. Immunosuppressive drugs may be used to reduce the body's autoimmune response.[1]

Symptoms

Symptoms of epidermolysis bullosa acquisita (EBA) usually occur in a person's 30s or 40s. The signs and symptoms can differ among affected people, and the condition has several distinct forms of onset.[1] For example:

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
The mucous membrane form of EBA may cause:
  • blisters on various mucous membranes
  • significant scarring and dysfunction[1]

The features of the condition may change during the course of the disease or may represent two forms at the same time.[2]

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
Abnormal hair morphology
Abnormality of the hair
Hair abnormality

[ more ]

0001595
30%-79% of people have these symptoms
Milia
Milk spot
0001056
5%-29% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Atypical scarring of skin
Atypical scarring
0000987
Diabetes mellitus
0000819
Hyperpigmentation of the skin
Patchy darkened skin
0000953
Inflammation of the large intestine
0002037
Nail dystrophy
Poor nail formation
0008404
Pruritus
Itching
Itchy skin
Skin itching

[ more ]

0000989

Cause

The underlying cause of epidermolysis bullosa acquisita (EBA) is not known. It is thought to be an autoimmune disorder, which means that the immune system attacks healthy cells by mistake. In EBA, certain immune proteins (usually IgG autoantibodies) mistakenly target and attack a specific type of collagen (a skin protein) involved in "anchoring" the skin.[1][3] In some milder cases of EBA, the immune proteins involved are thought to be IgA, rather than IgG autoantibodies. The initiating event that leads to autoantibody production is unknown.[3]

EBA affecting several family members has been reported, suggesting a genetic component may be involved in some cases. Rarely, people with lupus, a systemic autoimmune disease, develop a generalized blistering skin disease with the features of EBA. EBA has also been associated with Crohn's disease.[3]

Treatment

Treatment of EBA may require a multidisciplinary team of doctors. Affected individuals with involvement of the gastrointestinal tract should be referred to a gastroenterologist. Likewise, dentists and ophthalmologists should be consulted for those with oral and ocular (eye) involvement. Medications used to treat EBA include oral corticosteroids (such as prednisone), anti-inflammatory agents (such as dapsone or colchicine), and medications that suppress the immune system (such as azathioprine or cyclophosphamide). Patients who are on long-term oral steroid treatment may be advised to take calcium, vitamin D, and, perhaps, bisphosphonates to reduce the risk of osteoporosis that can be associated with steroid use. Extracorporeal photochemotherapy (photophoresis) has been shown to be effective in some cases. In patients who do not respond to other therapies, medications such as rituximab may be considered. Patients with EBA should avoid contact sports and direct physical trauma to the skin whenever possible and may be instructed to use protective pads to cover skin surfaces when undergoing planned physical activities. Patients with oral involvement should avoid hard foods such as pretzels, nuts, and chips. Patients with EBA should be monitored regularly by physicians with experience in treating autoimmune skin disease. During the active disease stage, patients should be monitored on a monthly basis; when in remission, patients should be monitored annually.[5]

 

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.

    Social Networking Websites

    • 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.

      Organizations Providing General Support

        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

        • 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.

          In-Depth Information

          • 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.

            References

            1. Epidermolysis bullosa acquisita. DermNet NZ. December 29, 2013; https://www.dermnetnz.org/immune/epidermolysis-bullosa-acquisita.html. Accessed 2/27/2014.
            2. Gupta R, Woodley DT, Chen M. Epidermolysis bullosa acquisita. Clin Dermatol. January-February, 2012; 30(1):60-69. Accessed 3/3/2014.
            3. Jaggi Rao. Epidermolysis bullosa acquisita. Medscape Reference. April 5, 2013; https://emedicine.medscape.com/article/1063083-overview. Accessed 3/3/2014.
            4. 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.
            5. Croom, Daniel. Epidermolysis Bullosa Acquisita. Medscape. April 29, 2016; https://emedicine.medscape.com/article/1063083-overview.

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