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ORPHA:251393

Localized junctional epidermolysis bullosa

high confidenceDisorder

Also known as: JEB-nH loc · Junctional epidermolysis bullosa, non-Herlitz localized type · Localized JEB

Publications

23

29.2th percentile

Trials

0

Interventional, condition-specific

Researchers

146

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of junctional epidermolysis bullosa characterized by onset of localized blistering, and dystrophic or absent nails. Skin blistering is mainly confined to hands, feet, lower legs and face. Additional findings may include dental enamel hypoplasia and an increased incidence of caries.

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.

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

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

    23 matched papers (11 in last 10 years) Source

  3. Phenotype characterisedPresent

    19 HPO annotations (e.g. Abnormal blistering of the skin; Abnormality of dental color; Dystrophic fingernails) 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 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)

19

Associated phenotypes · MONDO:0016673

  • Abnormal blistering of the skin
  • Abnormality of dental color
  • Dystrophic fingernails
  • Milia
  • Limb joint contracture

Showing 5 of 19 — 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 2026-07-29

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

23

23 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=3967) is 59.

23 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).

11 in the last 10 years · high confidence · 29.2th percentile (publications denominator)

Phrase hits: 23 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

146

Distinct author names in 23 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
    Zambruno G3 papers · 2021

    Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, viale di San Paolo 15, 00146 Rome, Italy.

    Papers in Europe PMC
  2. 02
    Bruckner-Tuderman L2 papers · 1999
    Papers in Europe PMC
  3. 03
    Castiglia D2 papers · 2021

    Laboratory of Molecular and Cell Biology, IDI-IRCCS, via Monti di Creta 104, 00167 Rome, Italy.

    Papers in Europe PMC
  4. 04
    Condorelli AG2 papers · 2021

    Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, viale di San Paolo 15, 00146 Rome, Italy.

    Papers in Europe PMC
  5. 05
    De Luca N2 papers · 2021

    Laboratory of Molecular and Cell Biology, IDI-IRCCS, via Monti di Creta 104, 00167 Rome, Italy.

    Papers in Europe PMC
  6. 06
    Fine JD2 papers · 2010

    Department of Medicine (Dermatology, Vanderbilt University School of Medicine, Head, National Epidermolysis Bullosa Registry Nashville, TN, USA. Jo-David.Fine@vanderbilt.edu

    Papers in Europe PMC
  7. 07
    Floeth M2 papers · 1999

    Department of Dermatology, University of Münster, 48149 Münster, Germany.

    Papers in Europe PMC
  8. 08
    Fortugno P2 papers · 2021

    Laboratory of Molecular and Cell Biology, IDI-IRCCS, via Monti di Creta 104, 00167 Rome, Italy.

    Papers in Europe PMC
  9. 09
    Jonkman MF2 papers · 2012

    Department of Dermatology, University Hospital, Groningen, The Netherlands.

    Papers in Europe PMC
  10. 10
    Olivry T2 papers · 2020

    Department of Clinical Sciences, College of Veterinary Medicine, North Carolina State University, Raleigh, NC 27607, USA.

    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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-30

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).

Uncertain / not reviewed (1)

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 Localized junctional epidermolysis bullosa — 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.

"Localized junctional epidermolysis bullosa" OR "JEB-nH loc" OR "Junctional epidermolysis bullosa, non-Herlitz localized type" OR "Localized JEB"

Run this search on Europe PMC

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

"Localized junctional epidermolysis bullosa" OR "JEB-nH loc" OR "Junctional epidermolysis bullosa, non-Herlitz localized type" OR "Localized 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 2026-07-27T10:46:14.897Z