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ORPHA:90281

Discoid lupus erythematosus

medium confidenceDisorder

Publications

5,391

96.1th percentile

Trials

25

Interventional, condition-specific

Researchers

905

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare form of chronic cutaneous lupus erythematosus characterized by erythematous, scaly papules and plaques preferentially occurring on sun-exposed skin areas (scalp, face, and ears) and exhibiting follicular plugging, pigmentary changes, and central atrophy, scarring, and telangiectasia. Skin biopsy shows a perivascular and periadnexal lymphocytic infiltrate and involvement of the dermoepidermal junction with thickening of the basement membrane and vacuolar degeneration of the basal cells. A small percentage of patients may develop systemic lupus erythematosus.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

DLE

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

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

    5,391 matched papers (2,691 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

    25 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)

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?

5,391

5,391 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=5449) is 41.

5,391 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).

2,691 in the last 10 years · medium confidence · 96.1th percentile (publications denominator)

Phrase hits: 5,388 · MeSH hits: 11

Open Europe PMC search

Who's working on it?

905

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
    Werth VP6 papers · 2026

    Corporal Michael J. Crescenz Veterans Affairs Medical Center, Philadelphia, Pennsylvania.

    Papers in Europe PMC
  2. 02
    Ayyanar P4 papers · 2026

    Pathology and Lab Medicine, All India Institute of Medical Sciences (AIIMS), Bhubaneswar, India .

    Papers in Europe PMC
  3. 03
    Behera B4 papers · 2026

    Departments of Dermatology and Venereology; and.

    Papers in Europe PMC
  4. 04
    Khosravi-Hafshejani T4 papers · 2026

    Department of Dermatology, Perelman SchoAmerican Academy of Dermatology and Society of Investigative Dermatologyol of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  5. 05
    Sethy M4 papers · 2026

    Pathology and Lab Medicine, All India Institute of Medical Sciences (AIIMS), Bhubaneswar, India .

    Papers in Europe PMC
  6. 06
    Ali H3 papers · 2025

    Department of Dermatology, Perelman SchoAmerican Academy of Dermatology and Society of Investigative Dermatologyol of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  7. 07
    Chambers S3 papers · 2025

    Department of Dermatology, Perelman SchoAmerican Academy of Dermatology and Society of Investigative Dermatologyol of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  8. 08
    Chen J3 papers · 2025

    Department of Rheumatology, Shanghai Skin Disease Hospital, Tongji University; 1500155@tongji.edu.cn.

    Papers in Europe PMC
  9. 09
    Gehlhausen JR3 papers · 2026

    Department of Dermatology, Yale School of Medicine, New Haven, Connecticut, USA.

    Papers in Europe PMC
  10. 10
    Li X3 papers · 2026

    Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, 210000, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

25

interventional trials for this specific condition

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

Data as of 27 July 2026

25 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 95.1th percentile).

medium confidence · 95.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

5 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.

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.

"Discoid lupus erythematosus"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Lupus Erythematosus, Discoid

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

"Discoid lupus erythematosus" OR "Lupus Erythematosus, Discoid"

Interventional trials matched via: both, phrase, mesh (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 25 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: DLE

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 2026-07-27T03:42:16.656Z