RARE DISEASERESEARCH ATLAS

ORPHA:157991

Generalized eruptive histiocytosis

high confidenceDisorder

Also known as: Generalized eruptive histiocytoma

Publications

143

55.4th percentile

Trials

0

Interventional, condition-specific

Researchers

630

Distinct authors in sample

Gene link

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare non-Langerhans cell histiocytosis characterized by rapid onset of crops of asymptomatic small red to brown papules, typically distributed symmetrically over the face, trunk, and proximal extremities, occasionally with mucous membrane involvement. The lesions resolve spontaneously without scarring after a variable time span and do not recur in most cases. Histopathology reveals diffuse, uniform dermal infiltration with non-xanthomatous histiocytes staining positive for CD68 and Ki-M1p. Multinucleate giant cells may occasionally be found.

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)

generalised eruptive histiocytoma · generalized eruptive histiocytoma

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    143 matched papers (56 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 trialPartial

    None under the specific name; 68 for broader category histiocytosis

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?

143

143 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.

143 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).

56 in the last 10 years · high confidence · 55.4th percentile (publications denominator)

Phrase hits: 143 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

630

Distinct author names in 143 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
    Caputo R4 papers · 2002

    Dermatologic Clinic (I), University of Milan, Italy.

    Papers in Europe PMC
  2. 02
    Goerdt S4 papers · 2015

    Department of Dermatology, Venereology and Allergology, University Medical Center and Medical Faculty Mannheim, University of Heidelberg, Center of Excellence in Dermatoloy T. Kutzer Ufer 1-3, 68167 Mannheim, Germany.

    Papers in Europe PMC
  3. 03
    Winkelmann RK3 papers · 1989
    Papers in Europe PMC
  4. 04
    Alessi E2 papers · 1993
    Papers in Europe PMC
  5. 05
    Anton-Lamprecht I2 papers · 1993
    Papers in Europe PMC
  6. 06
    Arnold ML2 papers · 1993

    Department of Dermatology, Ruprecht-Karls University, Heidelberg, Germany.

    Papers in Europe PMC
  7. 07
    Choi JH2 papers · 2000
    Papers in Europe PMC
  8. 08
    Cinotti E2 papers · 2024

    Dermatology Unit, Department of Medical, Surgical and Neurological Sciences, University of Siena, 53100 Siena, Italy.

    Papers in Europe PMC
  9. 09
    Del Marmol V2 papers · 2024

    Department of Dermatology, Erasme Hospital, Université Libre de Bruxelles, 1050 Brussels, Belgium.

    Papers in Europe PMC
  10. 10
    Diamond EL2 papers · 2022

    Department of Neurology, Memorial Sloan Kettering Cancer Center, New York, NY;

    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). 68 trials are registered for histiocytosis, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

high 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.

68 interventional trials matched histiocytosis, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: histiocytosis

68

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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.

"Generalized eruptive histiocytosis" OR "Generalized eruptive histiocytoma" OR "generalised eruptive histiocytoma"

Run this search on Europe PMC

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

"Generalized eruptive histiocytosis" OR "Generalized eruptive histiocytoma" OR "generalised eruptive histiocytoma"

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

Parent-category trials query:

"histiocytosis"

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 2026-07-27T08:04:04.674Z