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ORPHA:537

Toxic epidermal necrolysis

low confidenceSubtype of disorder

Also known as: Lyell syndrome

Publications

11,468

Trials

15

Interventional, condition-specific

Researchers

1,115

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

An extended form of Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum characterized by destruction and detachment of the skin epithelium, involving 30% or more of the body surface area, and mucous membranes. Onset usually occurs 4-28 days after administration of the causal medication and is most frequently associated with anticonvulsants, antibacterial sulfonamides, allopurinol, nevirapine, and oxicams (non-steroidal anti-inflammatory drugs), but many other medications have also been implicated. The disease is not induced by medication in 15% of cases. Histology is characterized by an epidermal necrolysis. Multiple disabling long-term sequelae (especially cutaneous, ocular and psychological) are frequent.

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.

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    11,468 matched papers (6,670 in last 10 years) Source

  3. Phenotype characterisedPresent

    39 HPO annotations (e.g. Macule; Elevated circulating hepatic transaminase concentration; Cough) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    15 matched on ClinicalTrials.gov (3 recruiting in sample)

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)

39

Associated phenotypes · MONDO:0018890

  • Macule
  • Elevated circulating hepatic transaminase concentration
  • Cough
  • Dysuria
  • Visual loss

Showing 5 of 39 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

11,468

11,468 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

11,468 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

6,670 in the last 10 years · low confidence

Phrase hits: 11,468 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,115

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
    Phillips EJ6 papers · 2026

    Department of Medicine, Center for Drug Safety and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.

    Papers in Europe PMC
  2. 02
    Abe R3 papers · 2026

    Division of Dermatology, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan.

    Papers in Europe PMC
  3. 03
    Ardern-Jones M3 papers · 2026

    Department of Dermatology, University Hospitals Southampton NHS Foundation Trust, Southampton, United Kingdom; Clinical Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.

    Papers in Europe PMC
  4. 04
    Bunker CB3 papers · 2026

    University College London Hospitals, London, UK.

    Papers in Europe PMC
  5. 05
    French LE3 papers · 2026

    Department of Dermatology and Allergy, Ludwig Maximilian University Munich, Munich, Germany.

    Papers in Europe PMC
  6. 06
    Heerfordt IM3 papers · 2026

    Department of Clinical Pharmacology, Copenhagen University Hospital-Bispebjerg and Frederiksberg, Copenhagen, Denmark.

    Papers in Europe PMC
  7. 07
    Horwitz H3 papers · 2026

    Department of Clinical Pharmacology, Copenhagen University Hospital-Bispebjerg and Frederiksberg, Copenhagen, Denmark.

    Papers in Europe PMC
  8. 08
    Ingen-Housz-Oro S3 papers · 2026

    Dermatology Department, AP-HP, Henri Mondor hospital, Crétil, France.

    Papers in Europe PMC
  9. 09
    Li C3 papers · 2026

    School of Medicine, UMass Chan Medical School, Worcester, Massachusetts, USA.

    Papers in Europe PMC
  10. 10
    Liu Z3 papers · 2026

    Department of Dermatology, Hangzhou Third People's Hospital, 38 Westlake Avenue, Hangzhou, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

15

interventional trials for this specific condition

15 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 11 September 2026

15 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94th percentile).

low confidence · 94th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

15 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

6 observational studies match 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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 18 · after dedupe 18 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 18 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (18)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Toxic epidermal necrolysis — check Associations / patient organisations on that page.

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.

"Toxic epidermal necrolysis" OR "Lyell syndrome"

Run this search on Europe PMC

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

"Toxic epidermal necrolysis" OR "Lyell syndrome"

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: 15 interventional · 6 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
  • Publication count (11468) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T14:14:53.851Z