ORPHA:46487
Epidermolysis bullosa acquisita
Also known as: Acquired epidermolysis bullosa
Clinical definition (Orphanet)
A rare, chronic, incurable, sub epithelial autoimmune bullous disease characterized by the presence of tissue bound autoantibodies against type VII collagen within the basement membrane zone of the dermal-epidermal junction of stratified squamous epithelia. The patient's serum may also have anti-type VII collagen autoantibodies. The clinical presentation is varied, and may involve the skin, oral mucosa and the upper third of the esophagus. The classical presentation is reminiscent of dystrophic epidermolysis bullosa (EB) with skin fragility, blisters and erosions and skin scarring. Other non-classical clinical presentations include an inflammatory bullous pemphigoid-like eruption, a mucous membrane pemphigoid-like eruption, and an IgA bullous dermatosis-like disease.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Is anyone studying this?
2,125
2,125 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
2,125 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
1,003 in the last 10 years · low confidence
Is a treatment being tested?
4
trials for this specific condition
4 interventional trials matched this specific condition name; 2 currently recruiting in our sample. 112 trials are registered for epidermolysis bullosa, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 26 July 2026
112
trials for epidermolysis bullosa, the broader category this belongs to
Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.
4 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 81.4th percentile).
low confidence · 81.4th percentile (trials denominator)
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Who's working on it?
992
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Schmidt E19 papers · 2026
Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.
Papers in Europe PMC - 02Bieber K15 papers · 2026
Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany. Electronic address: katja.bieber@uksh.de.
Papers in Europe PMC - 03Ludwig RJ13 papers · 2026
Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.
Papers in Europe PMC - 04Hashimoto T10 papers · 2026
Department of Dermatology, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.
Papers in Europe PMC - 05Ishii N7 papers · 2026
Department of Dermatology, Kurume University School of Medicine, Fukuoka, Japan.
Papers in Europe PMC - 06van Beek N7 papers · 2026
Department of Dermatology, University of Lübeck, Lübeck, Germany.
Papers in Europe PMC - 07Murthy S6 papers · 2026
Department of Dermatology, University of Lübeck, Lübeck, Germany.
Papers in Europe PMC - 08Daneshpazhooh M5 papers · 2024
Department of Dermatology, Razi Dermatology Hospital, Autoimmune Bullous Diseases Research Center, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Papers in Europe PMC - 09Dasdar S5 papers · 2024
Department of Dermatology, Razi Dermatology Hospital, Autoimmune Bullous Diseases Research Center, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Papers in Europe PMC - 10Emtenani S5 papers · 2026
Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
4 interventional trials matched after quoted-phrase search and title/condition post-filter.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Epidermolysis bullosa acquisita" OR "Acquired epidermolysis bullosa" OR "epidermolysis bullosa Aquisita"
MeSH descriptor terms unioned into the query: Epidermolysis Bullosa Acquisita
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Epidermolysis bullosa acquisita" OR "Acquired epidermolysis bullosa" OR "epidermolysis bullosa Aquisita"
Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 4 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:D016107 UMLS:C0079293 NCIT:C84690
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: EBA
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (2125) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity