RARE DISEASERESEARCH ATLAS

ORPHA:90283

Lupus erythematosus tumidus

medium confidenceDisorder

Also known as: Intermittent cutaneous lupus

Publications

224

71.4th percentile

Trials

0

Interventional, condition-specific

Researchers

815

Distinct authors in sample

Gene link

Readiness

1/6

Stages with a signal

Clinical definition (Orphanet)

A rare form of chronic cutaneous lupus erythematosus characterized by extreme photosensitivity with intermittent formation of erythematous, edematous, urticarial-like, smooth plaques on sun-exposed skin areas. The lesions heal without scarring. The course of the disease is benign, and development of systemic lupus erythematosus is infrequent. Most patients do not have lupus-related autoantibodies. Skin biopsy shows a perivascular and periadnexal lymphocytic infiltrate and increased dermal mucin deposition without involvement of the dermoepidermal junction.

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.

Additional Mondo synonyms (3)

LET · intermittent cutaneous lupus · let

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.”

1/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    224 matched papers (133 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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?

224

224 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.

224 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).

133 in the last 10 years · medium confidence · 71.4th percentile (publications denominator)

Phrase hits: 224 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

815

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Kuhn A14 papers · 2018

    Hautklinik der Heinrich-Heine-Universität Düsseldorf.

    Papers in Europe PMC
  2. 02
    Lehmann P12 papers · 2017

    Department of Dermatology, Allergy and Dermatosurgery, HELIOS Hospital Wuppertal, University Witten/Herdecke, Wuppertal, Germany.

    Papers in Europe PMC
  3. 03
    Werth VP11 papers · 2026

    a Dermatology Section, Corporal Michael J. Crescenz Philadelphia VA Medical Center , Philadelphia , PA , USA.

    Papers in Europe PMC
  4. 04
    Ruzicka T9 papers · 2011
    Papers in Europe PMC
  5. 05
    Chong BF8 papers · 2025

    Department of Dermatology, University of Texas at Southwestern Medical Center, Dallas, TX, USA.

    Papers in Europe PMC
  6. 06
    Megahed M6 papers · 2003
    Papers in Europe PMC
  7. 07
    Bonsmann G5 papers · 2015
    Papers in Europe PMC
  8. 08
    Kreuter A5 papers · 2021

    Connective Tissue Disease Research Unit, Department of Dermatology, Ruhr University Bochum, Bochum, Germany. a.kreuter@derma.de

    Papers in Europe PMC
  9. 09
    Reich A5 papers · 2022

    Department of Dermatology, Venereology and Allergology, Wroclaw Medical University, Wroclaw, Poland.

    Papers in Europe PMC
  10. 10
    Sonntag M5 papers · 2003

    Department of Dermatology, Heinrich-Heine University, Düsseldorf, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

medium confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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.

"Lupus erythematosus tumidus" OR "Intermittent cutaneous lupus"

Run this search on Europe PMC

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

"Lupus erythematosus tumidus" OR "Intermittent cutaneous lupus"

Study-type breakdown: 0 interventional · 0 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

Synonyms dropped by stoplist: LET

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 2026-07-27T03:42:40.224Z