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ORPHA:36426

Stevens-Johnson syndrome

high confidenceSubtype of disorder

Also known as: Dermatostomatitis, Stevens Johnson type

Publications

17,261

96.6th percentile

Trials

19

Interventional, condition-specific

Researchers

1,068

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A limited form of Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum characterized by destruction and detachment of the skin epithelium, involving less than 10% 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: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

Stevens Johnson 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.”

4/6 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

    17,261 matched papers (8,634 in last 10 years) Source

  3. Phenotype characterisedPresent

    39 HPO annotations (e.g. Renal insufficiency; Visual impairment; Conjunctivitis) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    19 matched on ClinicalTrials.gov (2 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:0018229

  • Renal insufficiency
  • Visual impairment
  • Conjunctivitis
  • Photophobia
  • Entropion

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

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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

10

Drugs / clinical candidates · MONDO_0018229

CTD chemicals (MyDisease.info)

271 associated chemicals · 552 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Cyclosporine · therapeutic
  • Perazine · therapeutic
  • Prednisolone · therapeutic
  • Prednisone · therapeutic
  • Sulpiride · therapeutic
  • Tacrolimus · therapeutic
  • 10-propargyl-10-deazaaminopterin · marker/mechanism
  • Abacavir · marker/mechanism
  • Acetaminophen · marker/mechanism
  • Acetazolamide · marker/mechanism
  • Acyclovir · marker/mechanism
  • Albendazole · marker/mechanism

Pathways: Arginine biosynthesis; Arginine and proline metabolism; Tyrosine metabolism; Phenylalanine metabolism; Arachidonic acid metabolism; Metabolic pathways; Endocrine resistance; Proteasome

MyDisease.info · MONDO:0018229

Literature

Is anyone studying this?

17,261

17,261 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.

17,261 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).

8,634 in the last 10 years · high confidence · 96.6th percentile (publications denominator)

Phrase hits: 17,261 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,068

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
    Gomes JÁP5 papers · 2026

    Department of Ophthalmology and Visual Sciences, Escola Paulista de Medicina, Universidade Federal de São Paulo, Botucatu Street 822, São Paulo 04023-062, Brazil.

    Papers in Europe PMC
  3. 03
    Ueta M5 papers · 2026

    Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.

    Papers in Europe PMC
  4. 04
    de Alcântara RJA4 papers · 2025

    Department of Ophthalmology and Visual Sciences, Escola Paulista de Medicina, Universidade Federal de São Paulo, Botucatu Street 822, São Paulo 04023-062, Brazil.

    Papers in Europe PMC
  5. 05
    Frizon L4 papers · 2025

    Department of Ophthalmology and Visual Sciences, Escola Paulista de Medicina, Universidade Federal de São Paulo, Botucatu Street 822, São Paulo 04023-062, Brazil.

    Papers in Europe PMC
  6. 06
    Sotozono C4 papers · 2026

    Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.

    Papers in Europe PMC
  7. 07
    Ardern-Jones M3 papers · 2026

    University Hospital Southampton, Southampton, UK.

    Papers in Europe PMC
  8. 08
    Chen CB3 papers · 2026

    Department of Dermatology, Drug Hypersensitivity Clinical and Research Center, Chang Gung Memorial Hospital, Linkou, Taipei, and Keelung, Taiwan; Department of Dermatology, Xiamen Chang Gung Hospital, Xiamen, China; School of Medicine, National Tsing-Hua University, Hsinchu, Taiwan; Immune-Oncology Center of Excellence, Chang Gung Memorial Hospital, Linkou, Taoyuan, Taiwan; Department of Medicine, College of Medicine, Chang Gung University, Taoyuan, Taiwan.

    Papers in Europe PMC
  9. 09
    Chung WH3 papers · 2026

    Department of Dermatology, Drug Hypersensitivity Clinical and Research Center, Chang Gung Memorial Hospital, Linkou, Taipei, and Keelung, Taiwan; Department of Dermatology, Xiamen Chang Gung Hospital, Xiamen, China; School of Medicine, National Tsing-Hua University, Hsinchu, Taiwan; Immune-Oncology Center of Excellence, Chang Gung Memorial Hospital, Linkou, Taoyuan, Taiwan; Department of Medicine, College of Medicine, Chang Gung University, Taoyuan, Taiwan.

    Papers in Europe PMC
  10. 10
    de Paiva CS3 papers · 2025

    Department of Ophthalmology, Baylor College of Medicine, Baylor Plz, Houston, TX 77030, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

19

interventional trials for this specific condition

19 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 11 September 2026

19 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.6th percentile).

high confidence · 94.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

8 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 Stevens-Johnson syndrome — 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.

"Stevens-Johnson syndrome" OR "Dermatostomatitis, Stevens Johnson type" OR "Stevens Johnson syndrome"

Run this search on Europe PMC

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

"Stevens-Johnson syndrome" OR "Dermatostomatitis, Stevens Johnson type" OR "Stevens Johnson 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: 19 interventional · 8 observational · 1 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 2026-07-26T23:54:57.249Z