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ORPHA:352662

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome

medium confidenceDisorder

Publications

45

41.2th percentile

Trials

1

Interventional, condition-specific

Researchers

257

Distinct authors in sample

Gene link

NLRP1

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare opthalmic disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhintis, dyshidrosis and/or nail thickening.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

MSPC · palmoplantar carcinoma, multiple self-healing · palmoplantar carcinoma, multiple self-healing; MSPC

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 — NLRP1

  2. LiteraturePresent

    45 matched papers (26 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 (NLRP1).

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?

45

45 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.

45 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).

26 in the last 10 years · medium confidence · 41.2th percentile (publications denominator)

Phrase hits: 45 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

257

Distinct author names in 45 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
    Banerjee A2 papers · 2020

    Conservative & MI Dentistry (including Endodontics), King's College London Dental Institute at Guy's Hospital, King's Health Partners, London, UK Tissue Engineering & Biophotonics, King's College London Dental Institute at Guy's Hospital, King's Health Partners, London, UK avijit.banerjee@kcl.ac.uk.

    Papers in Europe PMC
  2. 02
    Berry KH2 papers · 2024

    U.S. Geological Survey, Western Ecological Research Center, Reno, NV, United States.

    Papers in Europe PMC
  3. 03
    Favuzza E2 papers · 2023

    Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Florence, Italy.

    Papers in Europe PMC
  4. 04
    Jacobson ER2 papers · 2024

    Department of Small Animal Clinical Sciences, College of Veterinary Medicine, University of Florida, Gainesville, FL, United States.

    Papers in Europe PMC
  5. 05
    Li X2 papers · 2025

    Department of Rheumatology, The Fifth affiliated Hospital of Sun Yat-sen University, Zhuhai, Guangdong province, China.

    Papers in Europe PMC
  6. 06
    Lucenteforte E2 papers · 2023

    Department of Statistics, Computer Science and Applications «G. Parenti», University of Florence, Florence, Italy.

    Papers in Europe PMC
  7. 07
    Mannocci F2 papers · 2020

    Conservative & MI Dentistry (including Endodontics), King's College London Dental Institute at Guy's Hospital, King's Health Partners, London, UK.

    Papers in Europe PMC
  8. 08
    Mencucci R2 papers · 2023

    Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Florence, Italy.

    Papers in Europe PMC
  9. 09
    Veta M2 papers · 2023

    Biomedical Engineering, Eindhoven University of Technology, Eindhoven, Netherlands.

    Papers in Europe PMC
  10. 10
    Virgili G2 papers · 2023

    Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Florence, 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.

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).

medium 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.

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.

Open the complete matched search on ClinicalTrials.gov

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.

"Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome" OR "palmoplantar carcinoma, multiple self-healing" OR "palmoplantar carcinoma, multiple self-healing; MSPC"

Run this search on Europe PMC

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

"Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome" OR "palmoplantar carcinoma, multiple self-healing" OR "palmoplantar carcinoma, multiple self-healing; MSPC" OR "NLRP1"

Recall-expansion terms: NLRP1

Interventional trials matched via: recall-expansion (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 · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MSPC

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 2026-07-27T14:16:19.233Z