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ORPHA:679

Malignant atrophic papulosis

low confidenceSubtype of disorder

Also known as: Cutaneo-muco-intestinal syndrome · MAP · Papulosis atrophicans maligna

Publications

951

Trials

2

Interventional, condition-specific

Researchers

882

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal.

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 (8)

Degos Disease · Degos disease · Kohlmeier-Degos disease · Kohlmeier-Degos-Delort-Tricort syndrome · Köhlmeier-Degos disease · Köhlmeier-Degos-Delort-Tricort syndrome · malignant atrophic papulosis · papulosis atrophican maligna

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

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

    951 matched papers (433 in last 10 years) Source

  3. Phenotype characterisedPresent

    41 HPO annotations (e.g. Fatigue; Myocardial infarction; Respiratory failure) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov (1 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)

41

Associated phenotypes · MONDO:0011208

  • Fatigue
  • Myocardial infarction
  • Respiratory failure
  • Abnormality of the lower urinary tract
  • Amaurosis fugax

Showing 5 of 41 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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

2

Drugs / clinical candidates · MONDO_0011208

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

951

951 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

951 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).

433 in the last 10 years · low confidence

Phrase hits: 951 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

882

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
    Magro CM12 papers · 2026

    Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY, USA.

    Papers in Europe PMC
  2. 02
    Shapiro L9 papers · 2026

    Albany Medical College, Albany, New York.

    Papers in Europe PMC
  3. 03
    Zouboulis CC8 papers · 2023

    Departments of Dermatology, Venereology, Allergology and Immunology, Dessau Medical Center, Brandenburg Medical School Theodor Fontane and Faculty of Health Sciences Brandenburg, Dessau, Germany.

    Papers in Europe PMC
  4. 04
    Shapiro LS6 papers · 2021

    Rheumatology, Albany Medical College, Ballston Spa, NY, USA.

    Papers in Europe PMC
  5. 05
    Kumar S5 papers · 2026

    Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany.

    Papers in Europe PMC
  6. 06
    Theodoridis A5 papers · 2022

    Departments of Dermatology, Venerology, Allergology and Immunology, Dessau Medical Center, Auenweg 38, Dessau, 06847, Germany.

    Papers in Europe PMC
  7. 07
    Betz RC4 papers · 2025

    Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, Bonn, Germany. Electronic address: regina.betz@uni-bonn.de.

    Papers in Europe PMC
  8. 08
    Frank J4 papers · 2025

    Department of Dermatology, Venereology and Allergology, University Medical Center Goettingen, Goettingen, Germany.

    Papers in Europe PMC
  9. 09
    Levy R4 papers · 2022

    Division of Dermatology, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.

    Papers in Europe PMC
  10. 10
    Lu JD4 papers · 2022

    Michael G. DeGroote School of Medicine, McMaster University, Hamilton, Ontario, Canada.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Malignant atrophic papulosis — 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.

"Malignant atrophic papulosis" OR "Cutaneo-muco-intestinal syndrome" OR "Papulosis atrophicans maligna" OR "Degos Disease" OR "Kohlmeier-Degos disease" OR "Kohlmeier-Degos-Delort-Tricort syndrome" OR "Köhlmeier-Degos disease" OR "Köhlmeier-Degos-Delort-Tricort syndrome" OR "papulosis atrophican maligna"

Run this search on Europe PMC

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

"Malignant atrophic papulosis" OR "Cutaneo-muco-intestinal syndrome" OR "Papulosis atrophicans maligna" OR "Degos Disease" OR "Kohlmeier-Degos disease" OR "Kohlmeier-Degos-Delort-Tricort syndrome" OR "Köhlmeier-Degos disease" OR "Köhlmeier-Degos-Delort-Tricort syndrome" OR "papulosis atrophican maligna"

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: 2 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: MAP

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • "Degos Disease" also appears on ORPHA:656071
  • "Köhlmeier-Degos disease" also appears on ORPHA:656071
  • Publication count (951) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T14:54:40.824Z