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ORPHA:79400

Localized epidermolysis bullosa simplex

high confidenceDisorder

Also known as: EBS-loc · Epidermolysis bullosa simplex of palms and soles · Epidermolysis bullosa simplex, Weber-Cockayne type · Localized EBS

Publications

14,538

97.3th percentile

Trials

1

Interventional, condition-specific

Researchers

540

Distinct authors in sample

Gene link

ITGB4, KRT14, KRT5

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

epidermolysis bullosa simplex 1C, localized · epidermolysis bullosa simplex of palms and soles · epidermolysis bullosa simplex, Weber-Cockayne type · localised epidermolysis bullosa simplex · localized epidermolysis bullosa simplex

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — ITGB4, KRT14, KRT5

  2. LiteraturePresent

    14,538 matched papers (11,288 in last 10 years) Source

  3. Phenotype characterisedPresent

    27 HPO annotations (e.g. Palmoplantar blistering; Stratum basale cleavage; Pruritus) 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

    1 matched on ClinicalTrials.gov

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?

Yes — we know a specific gene responsible (ITGB4, KRT14, KRT5).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

27

Associated phenotypes · MONDO:0007551

  • Palmoplantar blistering
  • Stratum basale cleavage
  • Pruritus
  • Lamina lucida cleavage

Showing 4 of 27 — 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?

14,538

14,538 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

14,538 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).

11,288 in the last 10 years · high confidence · 97.3th percentile (publications denominator)

Phrase hits: 90 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

540

Distinct author names in 90 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
    Wertheim-Tysarowska K5 papers · 2020

    Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.

    Papers in Europe PMC
  2. 02
    Bolling MC4 papers · 2024

    University of Groningen, University Medical Center Groningen, Department of Dermatology, 9700 RB Groningen, The Netherlands.

    Papers in Europe PMC
  3. 03
    Has C4 papers · 2026

    Department of Dermatology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

    Papers in Europe PMC
  4. 04
    Jonkman MF3 papers · 2012

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

    Papers in Europe PMC
  5. 05
    Kowalewski C3 papers · 2016

    Department of Dermatology and Immunodermatology, Medical University of Warsaw, Chalubinskiego 5, 02004, Warsaw, Poland.

    Papers in Europe PMC
  6. 06
    Li M3 papers · 2021

    Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

    Papers in Europe PMC
  7. 07
    Liu L3 papers · 2024

    Viapath, St Thomas' Hospital, London, U.K.

    Papers in Europe PMC
  8. 08
    Mellerio JE3 papers · 2020

    EB Department, Great Ormond Street Hospital for Sick Children, London, U.K.

    Papers in Europe PMC
  9. 09
    Yao Z3 papers · 2021

    Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

    Papers in Europe PMC
  10. 10
    Zambruno G3 papers · 2026

    Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 16 trials are registered for epidermolysis bullosa simplex, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: epidermolysis bullosa simplex

16

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 epidermolysis bullosa simplex — 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 epidermolysis bullosa simplex" OR "EBS-loc" OR "Epidermolysis bullosa simplex of palms and soles" OR "Epidermolysis bullosa simplex of the palms and soles" OR "Epidermolysis bullosa simplex, Weber-Cockayne type" OR "Localized EBS" OR "epidermolysis bullosa simplex 1C, localized" OR "localised epidermolysis bullosa simplex") OR ("ITGB4" OR "ITGB4 syndrome" OR "ITGB4-related" OR "KRT14" OR "KRT14 syndrome" OR "KRT14-related" OR "KRT5" OR "KRT5 syndrome" OR "KRT5-related")

Run this search on Europe PMC

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

"Localized epidermolysis bullosa simplex" OR "EBS-loc" OR "Epidermolysis bullosa simplex of palms and soles" OR "Epidermolysis bullosa simplex of the palms and soles" OR "Epidermolysis bullosa simplex, Weber-Cockayne type" OR "Localized EBS" OR "epidermolysis bullosa simplex 1C, localized" OR "localised epidermolysis bullosa simplex"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"epidermolysis bullosa simplex"

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 2026-07-27T02:21:35.187Z