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ORPHA:158025

Hereditary progressive mucinous histiocytosis

high confidenceDisorder

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

23

24.9th percentile

Trials

0

Interventional, condition-specific

Researchers

112

Distinct authors in sample

Gene link

PDGFRB

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis.

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.

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

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

  1. Gene identifiedPresent

    Limited — PDGFRB

  2. LiteraturePresent

    23 matched papers (8 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?

Possibly — only limited evidence so far for PDGFRB.

GenCC classification: Limited.

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?

23

23 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.

23 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).

8 in the last 10 years · high confidence · 24.9th percentile (publications denominator)

Phrase hits: 23 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

112

Distinct author names in 23 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
    Bork K3 papers · 2021

    Department of Dermatology, University of Mainz, West Germany.

    Papers in Europe PMC
  2. 02
    Boulouadnine B2 papers · 2021

    De Duve Institute, Université Catholique de Louvain, Avenue Hippocrate 75, Box B1.74.05, 1200, Brussels, Belgium.

    Papers in Europe PMC
  3. 03
    Dachy G2 papers · 2021

    De Duve Institute, Université Catholique de Louvain, Avenue Hippocrate 75, Box B1.74.05, 1200, Brussels, Belgium.

    Papers in Europe PMC
  4. 04
    Demoulin JB2 papers · 2021

    De Duve Institute, Université Catholique de Louvain, Avenue Hippocrate 75, Box B1.74.05, 1200, Brussels, Belgium. jb.demoulin@uclouvain.be.

    Papers in Europe PMC
  5. 05
    Abdel-Wahab O1 paper · 2021

    Human Oncology and Pathogenesis Program, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA.

    Papers in Europe PMC
  6. 06
    Abdollahimajd F1 paper · 2023

    Department of Dermatology, Shohada-e Tajrish Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

    Papers in Europe PMC
  7. 07
    Amoaku W1 paper · 2014

    Queens Medical Centre, Nottingham, UK.

    Papers in Europe PMC
  8. 08
    André J1 paper · 2000
    Papers in Europe PMC
  9. 09
    Antoni-Bach N1 paper · 2000

    Service de Dermatologie, Hôpital Pasteur, 68024 Colmar Cedex, France.

    Papers in Europe PMC
  10. 10
    Arts F1 paper · 2021

    De Duve Institute, Université Catholique de Louvain, Avenue Hippocrate 75, Box B1.74.05, 1200, Brussels, Belgium.

    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.

"Hereditary progressive mucinous histiocytosis"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Histiocytosis, Progressive Mucinous

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

"Hereditary progressive mucinous histiocytosis" OR "Histiocytosis, Progressive Mucinous" OR "PDGFRB"

Recall-expansion terms: PDGFRB

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

Parent-category trials query:

"histiocytosis"

Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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 2026-07-27T08:05:59.365Z