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ORPHA:79405

Junctional epidermolysis bullosa inversa

high confidenceDisorder

Also known as: JEB inversa · JEB-I

Publications

25

30.9th percentile

Trials

0

Interventional, condition-specific

Researchers

184

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare intermediate form of junctional epidermolysis bullosa characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, groin, and perineum. Blistering is usually severe and lesions may heal with atrophic scarring and milia formation. Extracutaneous manifestations include nail , enamel hypoplasia and dental caries, oral, esophageal and vaginal blisters and erosions.

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 (2)

EBJ-I · inverse JEB

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.”

2/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    25 matched papers (13 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 10 for broader category junctional epidermolysis bullosa

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)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

25

25 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

25 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

13 in the last 10 years · high confidence · 30.9th percentile (publications denominator)

Phrase hits: 25 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

184

Distinct author names in 25 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Buring JE2 papers · 2022

    Division of Preventive Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  2. 02
    Gedde-Dahl T Jr2 papers · 1994

    Institute of Forensic Medicine, University of Oslo, Rikshospitalet, Norway.

    Papers in Europe PMC
  3. 03
    Lee IM2 papers · 2022

    Division of Preventive Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  4. 04
    Peñarrocha Diago M2 papers · 2020

    Stomatology Department, Faculty of Medicine and Dentistry, University of Valencia, Spain.

    Papers in Europe PMC
  5. 05
    Winberg JO2 papers · 1994
    Papers in Europe PMC
  6. 06
    Zhang X2 papers · 2015

    School of Physics, Beijing Institute of Technology, 100081, Beijing, China.

    Papers in Europe PMC
  7. 07
    Alexander MH1 paper · 2023

    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA.

    Papers in Europe PMC
  8. 08
    Almeland S1 paper · 2024

    European Burns Association, 5201 AK 's-Hertogenbosch, The Netherlands.

    Papers in Europe PMC
  9. 09
    Alsayer F1 paper · 2020

    Royal National ENT and Eastman Dental Hospitals, University College London Hospitals, London, UK.

    Papers in Europe PMC
  10. 10
    Antal MA1 paper · 2020

    University of Szeged, Faculty of Dentistry, Szeged, Hungary.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 10 trials are registered for junctional epidermolysis bullosa, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

10 interventional trials matched junctional epidermolysis bullosa, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: junctional epidermolysis bullosa

10

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

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 2026-07-26

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.

"Junctional epidermolysis bullosa inversa" OR "JEB inversa" OR "JEB-I" OR "EBJ-I" OR "inverse JEB"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Junctional epidermolysis bullosa inversa" OR "JEB inversa" OR "JEB-I" OR "EBJ-I" OR "inverse JEB"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"junctional epidermolysis bullosa"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T02:22:30.012Z