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ORPHA:46487

Epidermolysis bullosa acquisita

low confidenceDisorder

Also known as: Acquired epidermolysis bullosa

Publications

2,125

Trials

4

Interventional, condition-specific

Researchers

992

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (4)

EBA · acquired epidermolysis bullosa · epidermolysis bullosa Aquisita · epidermolysis bullosa acquisita

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,125 matched papers (1,003 in last 10 years) Source

  3. Phenotype characterisedPresent

    10 HPO annotations (e.g. Diabetes mellitus; Abdominal pain; Atypical scarring of skin) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    4 matched on ClinicalTrials.gov (2 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

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.

Phenotypes (Monarch / HPO)

10

Associated phenotypes · MONDO:0018747

  • Diabetes mellitus
  • Abdominal pain
  • Atypical scarring of skin
  • Pruritus
  • Milia

Showing 5 of 10 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-27

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0018747

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

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=3967) is 59.

2,125 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,003 in the last 10 years · low confidence

Phrase hits: 2,125 · MeSH hits: 38

Open Europe PMC search

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.

  1. 01
    Schmidt E19 papers · 2026

    Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.

    Papers in Europe PMC
  2. 02
    Bieber K15 papers · 2026

    Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany. Electronic address: katja.bieber@uksh.de.

    Papers in Europe PMC
  3. 03
    Ludwig RJ13 papers · 2026

    Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.

    Papers in Europe PMC
  4. 04
    Hashimoto T10 papers · 2026

    Department of Dermatology, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.

    Papers in Europe PMC
  5. 05
    Ishii N7 papers · 2026

    Department of Dermatology, Kurume University School of Medicine, Fukuoka, Japan.

    Papers in Europe PMC
  6. 06
    van Beek N7 papers · 2026

    Department of Dermatology, University of Lübeck, Lübeck, Germany.

    Papers in Europe PMC
  7. 07
    Murthy S6 papers · 2026

    Department of Dermatology, University of Lübeck, Lübeck, Germany.

    Papers in Europe PMC
  8. 08
    Daneshpazhooh 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
  9. 09
    Dasdar 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
  10. 10
    Emtenani S5 papers · 2026

    Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional 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 9 September 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

low confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

4 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: epidermolysis bullosa

112

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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.

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-27

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Epidermolysis bullosa acquisita — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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 on the overview but are not added to the query string.

"Epidermolysis bullosa acquisita" OR "Acquired epidermolysis bullosa" OR "epidermolysis bullosa Aquisita"

Run this search on Europe PMC

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.

Parent-category trials query:

"epidermolysis bullosa"

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

Ingested 2026-07-26T01:43:26.100Z