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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

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

90

55.8th percentile

Trials

1

Interventional, condition-specific

Researchers

540

Distinct authors in sample

Gene link

ITGB4, KRT14, KRT5

Strong

Readiness

3/6

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.”

3/6 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

    90 matched papers (57 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 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)

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?

90

90 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.

90 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).

57 in the last 10 years · high confidence · 55.8th 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 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th 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

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.

"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"

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" OR "ITGB4" OR "KRT14" OR "KRT5"

Recall-expansion terms: ITGB4, KRT14, KRT5

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: suspect — strategies attempted: phrase, recall-expansion; 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