ORPHA:158668
Ectodermal dysplasia-skin fragility syndrome
Also known as: McGrath syndrome
Publications
118
53.9th percentile
Trials
0
Interventional, condition-specific
Researchers
631
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering.
How rare: How common this is has not been clearly measured.
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
118 matched papers (52 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
118
118 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.
118 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).
52 in the last 10 years · high confidence · 53.9th percentile (publications denominator)
Phrase hits: 118 · MeSH hits: 0
Who's working on it?
631
Distinct author names in 118 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.
- 01McGrath JA15 papers · 2020
Department of Cell Pathology, St. John's Institute of Dermatology (United Medical and Dental School), St. Thomas's Hospital, London, UK.
Papers in Europe PMC - 02Eady RA5 papers · 2003Papers in Europe PMC
- 03South AP4 papers · 2009
Department of Cell and Molecular Pathology, St John's Institute of Dermatology, Guy's, King's and St Thomas' School of Medicine, London, UK. andrew.south@kcl.ac.uk
Papers in Europe PMC - 04Fete M3 papers · 2022
The National Foundation for Ectodermal Dysplasias, Mascoutah, Illinosis.
Papers in Europe PMC - 05Green KJ3 papers · 2015
Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611 Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611 R.H. Lurie Comprehensive Cancer Center, Northwestern University Feinberg School of Medicine, Chicago, IL 60611 kgreen@northwestern.edu.
Papers in Europe PMC - 06Hatzfeld M3 papers · 2025
Institute of Molecular Medicine, Division of Pathobiochemistry, Martin-Luther-University Halle-Wittenberg, 06114 Halle, Germany.
Papers in Europe PMC - 07Keil R3 papers · 2025
Institute of Molecular Medicine, Division of Pathobiochemistry, Martin-Luther-University Halle-Wittenberg, 06114 Halle, Germany.
Papers in Europe PMC - 08Koster MI3 papers · 2022
NFED Scientific Advisory Council, Fairview Heights, Illinois.
Papers in Europe PMC - 09
- 10McMillan JR3 papers · 2016
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan. jrm57@med.hokudai.ac.jp
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).
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-26This 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.
"Ectodermal dysplasia-skin fragility syndrome" OR "McGrath syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ectodermal dysplasia-skin fragility syndrome" OR "McGrath syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 2026-07-27T08:06:46.103Z