ORPHA:678
Papillon-Lefèvre syndrome
Also known as: Keratosis palmoplantar-periodontopathy syndrome · PLS
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,021
88.1th percentile
Trials
0
Interventional, condition-specific
Researchers
996
Distinct authors in sample
Gene link
CTSC
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Papillon-Lefèvre syndrome (PLS) is a rare ectodermal characterized by palmoplantar keratoderma associated with early-onset periodontitis.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009490
- MeSH:D010214
- OMIM:245000
- UMLS:C0030360
- NCIT:C84992
Additional Mondo synonyms (2)
Papillon Lefèvre Syndrome · keratosis palmoplantar-periodontopathy syndrome
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — CTSC
- LiteraturePresent
1,021 matched papers (401 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?
Yes — we know a specific gene responsible (CTSC).
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?
1,021
1,021 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
1,021 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).
401 in the last 10 years · medium confidence · 88.1th percentile (publications denominator)
Phrase hits: 1,021 · MeSH hits: 0
Who's working on it?
996
Distinct author names in 200 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.
- 01Chalmers JD7 papers · 2025
Division of Molecular and Clinical Medicine, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK.
Papers in Europe PMC - 02Korkmaz B7 papers · 2024
INSERM U-1100 "Centre d'Etude des Pathologies Respiratoires", Tours, France.
Papers in Europe PMC - 03Eickholz P4 papers · 2022
Department of Periodontology, Johann Wolfgang Goethe-University Frankfurt, Germany.
Papers in Europe PMC - 04Abouzaid MR3 papers · 2024
Division of Human Genetics and Genome Research, Department of Oro-Dental Genetics, National Research Centre, Cairo, Egypt.
Papers in Europe PMC - 05Basso J3 papers · 2026
Insmed Incorporated, 700 US Highway 202/206, Bridgewater, NJ, 08807, USA.
Papers in Europe PMC - 06Battino M3 papers · 2021
Department of Clinical Sciences, Università Politecnica delle Marche, Ancona, Italy.
Papers in Europe PMC - 07Chapple I3 papers · 2026
Institute of Clinical Sciences, College of Medical and Dental Sciences, Periodontal Research Group, University of Birmingham, and Birmingham Community Health Trust, Edgbaston, Birmingham, UK.
Papers in Europe PMC - 08Jenne DE3 papers · 2020
Comprehensive Pneumology Center, Institute of Lung Biology and Disease (iLBD), German Center for Lung Research (DZL), Munich, Germany.
Papers in Europe PMC - 09Jindal AK3 papers · 2024
Pediatric Allergy Immunology Unit, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Papers in Europe PMC - 10Kapferer-Seebacher I3 papers · 2025
Department of Operative and Restorative Dentistry, Medical University of Innsbruck, Innsbruck, Austria.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
medium 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.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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.
"Papillon-Lefèvre syndrome" OR "Keratosis palmoplantar-periodontopathy syndrome" OR "Papillon Lefèvre Syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Papillon-Lefèvre syndrome" OR "Keratosis palmoplantar-periodontopathy syndrome" OR "Papillon Lefèvre Syndrome" OR "CTSC"
Recall-expansion terms: CTSC
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: PLS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T14:54:19.451Z