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ORPHA:79397

Epidermolysis bullosa simplex with mottled pigmentation

high confidenceDisorder

Also known as: EBS with mottled pigmentation · EBS-MP

Publications

91

48th percentile

Trials

0

Interventional, condition-specific

Researchers

481

Distinct authors in sample

Gene link

KRT5

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, inherited, epidermolysis bullosa simplex characterized by or onset of generalized blistering with mottled or reticulate brown pigmentation developing later. Blistering is often accompanied by mild nail and focal palmoplantar keratoderma, and rarely by milia and mostly affects the limbs and trunk.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

epidermolysis bullosa simplex 2F, with mottled pigmentation · epidermolysis bullosa simplex with mottled pigmentation

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 identifiedPresent

    Definitive — KRT5

  2. LiteraturePresent

    91 matched papers (37 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; 17 for broader category epidermolysis bullosa simplex

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 (KRT5).

GenCC classification: Definitive.

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?

91

91 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.

91 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).

37 in the last 10 years · high confidence · 48th percentile (publications denominator)

Phrase hits: 91 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

481

Distinct author names in 91 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
    Coulombe PA4 papers · 2012

    Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA. pcoulomb@jhsph.edu

    Papers in Europe PMC
  2. 02
    Fuchs E4 papers · 2009

    Department of Molecular Genetics and Cell Biology, Howard Hughes Medical Institute, University of Chicago, Illinois 60637, USA.

    Papers in Europe PMC
  3. 03
    Richard G4 papers · 2007
    Papers in Europe PMC
  4. 04
    Uitto J4 papers · 2013

    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA. Jouni.Uitto@jefferson.edu

    Papers in Europe PMC
  5. 05
    Betz RC3 papers · 2015

    Institute of Human Genetics, University of Bonn, D-53111 Bonn, Germany. regina.betz@uni-bonn.de

    Papers in Europe PMC
  6. 06
    Hamada T3 papers · 2007

    Department of Dermatology, Kurume University School of Medicine, 67 Asahimachi, Kurume, Fukuoka, 830-0011, Japan. hamataka@med.kurume-u.ac.jp

    Papers in Europe PMC
  7. 07
    Hashimoto T3 papers · 2007
    Papers in Europe PMC
  8. 08
    Irvine AD3 papers · 2007

    Department of Medical Genetics, The Queen's University of Belfast, Northern Ireland, United Kingdom.

    Papers in Europe PMC
  9. 09
    Kawano Y3 papers · 2007
    Papers in Europe PMC
  10. 10
    McGrath JA3 papers · 2007
    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). 17 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

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.

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

Broader category: epidermolysis bullosa simplex

17

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.

"Epidermolysis bullosa simplex with mottled pigmentation" OR "EBS with mottled pigmentation" OR "EBS-MP" OR "epidermolysis bullosa simplex 2F, with mottled pigmentation"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Epidermolysis bullosa simplex with mottled pigmentation

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

"Epidermolysis bullosa simplex with mottled pigmentation" OR "EBS with mottled pigmentation" OR "EBS-MP" OR "epidermolysis bullosa simplex 2F, with mottled pigmentation" OR "KRT5"

Recall-expansion terms: KRT5

Study-type breakdown: 0 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, mesh, recall-expansion; with hits: phrase, mesh

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 2026-07-27T02:21:03.963Z