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ORPHA:167635

Scleromyxedema

low confidenceDisorder

Also known as: Arndt-Gottron disease · Generalized lichenoid papular eruption · Generalized papular and sclerodermoid lichen myxedematosus

Publications

1,042

Trials

1

Interventional, condition-specific

Researchers

902

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare lichen myxedematosus characterized by a , generalized, papular, sclerodermoid cutaneous eruption usually occurring in association with monoclonal gammopathy, but in the absence of thyroid disease. Histological hallmark is the triad of dermal mucin deposition, fibroblast proliferation, and fibrosis. Patients present with relatively sudden onset of numerous closely spaced, waxy, firm papules and plaques predominantly involving the head, neck, trunk, and dorsal aspects of the extremities, on the background of thickened, edematous, erythematous skin with sclerodermoid appearance. Systemic involvement with cardiovascular, gastrointestinal, pulmonary, musculoskeletal, renal, or nervous system complications is common.

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 (5)

generalised lichenoid papular eruption · generalised papular and sclerodermoid lichen myxedematosus · generalized lichenoid papular eruption · generalized papular and sclerodermoid lichen myxedematosus · scleromyxoedema

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

    1,042 matched papers (420 in last 10 years) Source

  3. Phenotype characterisedPresent

    41 HPO annotations (e.g. Generalized abnormality of skin; Paraproteinemia; Papule) 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

    1 matched on ClinicalTrials.gov

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:0015665

  • Generalized abnormality of skin
  • Paraproteinemia
  • Papule
  • Abnormality of the face
  • Abnormality of the neck

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

1 associated chemical. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Isotretinoin · therapeutic

MyDisease.info · MONDO:0015665

Literature

Is anyone studying this?

1,042

1,042 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.

1,042 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).

420 in the last 10 years · low confidence

Phrase hits: 1,042 · MeSH hits: 13

Open Europe PMC search

Who's working on it?

902

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
    Rongioletti F6 papers · 2026

    Section of Pathology, Department of Surgical and Morphological Sciences, University of Genoa, Genoa, Italy.

    Papers in Europe PMC
  2. 02
    Enk AH4 papers · 2026

    Department of Dermatology, University Hospital Heidelberg, Heidelberg, Germany.

    Papers in Europe PMC
  3. 03
    Bouaziz JD3 papers · 2025

    Service de Dermatologie, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris (AP-HP), Université de Paris.

    Papers in Europe PMC
  4. 04
    Li Y3 papers · 2024

    Department of Dermatology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

    Papers in Europe PMC
  5. 05
    Mahévas T3 papers · 2025

    Service de Dermatologie, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris (AP-HP), Université de Paris.

    Papers in Europe PMC
  6. 06
    Winkler JK3 papers · 2026

    Department of Dermatology, University Hospital Heidelberg, Heidelberg, Germany.

    Papers in Europe PMC
  7. 07
    Bagot M2 papers · 2024

    Service de Dermatologie, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris (AP-HP), Université de Paris.

    Papers in Europe PMC
  8. 08
    Bettolini L2 papers · 2024

    Department of Dermatology, University of Brescia, Brescia, Italy.

    Papers in Europe PMC
  9. 09
    Calzavara-Pinton P2 papers · 2024

    Department of Dermatology, University of Brescia, Brescia, Italy.

    Papers in Europe PMC
  10. 10
    Chantran Y2 papers · 2021

    Department of Immunology, Hospital St Antoine, Paris, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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 2026-07-30

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 Scleromyxedema — 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.

"Scleromyxedema" OR "Arndt-Gottron disease" OR "Generalized lichenoid papular eruption" OR "Generalized papular and sclerodermoid lichen myxedematosus" OR "generalised lichenoid papular eruption" OR "generalised papular and sclerodermoid lichen myxedematosus" OR "scleromyxoedema"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Scleromyxedema

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

"Scleromyxedema" OR "Arndt-Gottron disease" OR "Generalized lichenoid papular eruption" OR "Generalized papular and sclerodermoid lichen myxedematosus" OR "generalised lichenoid papular eruption" OR "generalised papular and sclerodermoid lichen myxedematosus" OR "scleromyxoedema"

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

Study-type breakdown: 1 interventional · 0 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

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1042) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T08:25:33.794Z