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ORPHA:302

Inherited epidermodysplasia verruciformis

low confidenceDisorder

Also known as: Lewandowsky-Lutz syndrome · Lutz-Lewandowsky epidermodysplasia verruciformis

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

Publications

2,069

Trials

2

Interventional, condition-specific

Researchers

927

Distinct authors in sample

Gene link

CORO1A, MST1, RHOH

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer.

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 (2)

Lewandowsky-Lutz dysplasia · epidermodysplasia verruciformis

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 — CORO1A, MST1, RHOH, TMC6

  2. LiteraturePresent

    2,069 matched papers (759 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

    2 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 (CORO1A, MST1, RHOH…).

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?

2,069

2,069 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.

2,069 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).

759 in the last 10 years · low confidence

Phrase hits: 2,069 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

927

Distinct author names in 200 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
    Casanova JL10 papers · 2026

    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France; Imagine Institute, Paris Cité University, France; Department of Pediatrics, Necker Hospital for Sick Children, Paris, France, EU; Howard Hughes Medical Institute, Chevy Chase, MD.

    Papers in Europe PMC
  2. 02
    Béziat V9 papers · 2026

    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France; Imagine Institute, Paris Cité University, France.

    Papers in Europe PMC
  3. 03
    Jouanguy E8 papers · 2026

    St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France; Imagine Institute, Paris Cité University, France.

    Papers in Europe PMC
  4. 04
    Rady PL5 papers · 2026

    Department of Dermatology, The University of Texas Health Science Center at Houston, Houston, Texas, USA.

    Papers in Europe PMC
  5. 05
    Tyring SK5 papers · 2026

    Department of Dermatology, The University of Texas Health Science Center at Houston, Houston, Texas, USA.

    Papers in Europe PMC
  6. 06
    Vahidnezhad H5 papers · 2026

    Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA. Electronic address: vahidnezhh@chop.edu.

    Papers in Europe PMC
  7. 07
    Yang Y5 papers · 2024

    Department of Dermatology, Peking University First Hospital, Beijing, China.

    Papers in Europe PMC
  8. 08
    Bousfiha AA4 papers · 2024

    Laboratory of Clinical Immunology, Inflammation and Allergy LICIA, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca 20250, Morocco.

    Papers in Europe PMC
  9. 09
    Saeidian AH4 papers · 2026

    Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA.

    Papers in Europe PMC
  10. 10
    Wang X4 papers · 2025

    Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

low confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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.

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.

"Inherited epidermodysplasia verruciformis" OR "Lewandowsky-Lutz syndrome" OR "Lutz-Lewandowsky epidermodysplasia verruciformis" OR "Lewandowsky-Lutz dysplasia" OR "epidermodysplasia verruciformis"

Run this search on Europe PMC

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

"Inherited epidermodysplasia verruciformis" OR "Lewandowsky-Lutz syndrome" OR "Lutz-Lewandowsky epidermodysplasia verruciformis" OR "Lewandowsky-Lutz dysplasia" OR "epidermodysplasia verruciformis" OR "CORO1A" OR "MST1" OR "RHOH" OR "TMC6"

Recall-expansion terms: CORO1A, MST1, RHOH, TMC6

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: 2 interventional · 0 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

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2069) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T13:19:56.380Z