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ORPHA:90289

Localized scleroderma

high confidenceDisorder

Also known as: Localized fibrosing scleroderma

Publications

6,579

93th percentile

Trials

20

Interventional, condition-specific

Researchers

936

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare skin disease characterized by inflammatory and sclerosing disease affecting the skin and underlying connective tissues (subcutaneous tissue, fascia, muscle or bone). It causes cutaneous patches or bands of skin inflammation and thickness affecting the head, neck region, trunk and extremities.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (8)

circumscribed scleroderma · localised fibrosing scleroderma · localised scleroderma (disorder) [ambiguous] · localized fibrosing scleroderma · localized morphoea · localized scleroderma · localized scleroderma (disorder) [ambiguous] · morphea

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

    6,579 matched papers (3,455 in last 10 years) Source

  3. Phenotype characterisedPresent

    55 HPO annotations (e.g. Arthritis; Myopathy; Abnormal cheek morphology) 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

    20 matched on ClinicalTrials.gov (2 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)

55

Associated phenotypes · MONDO:0019562

  • Arthritis
  • Myopathy
  • Abnormal cheek morphology
  • Short dental root
  • Upper limb asymmetry

Showing 5 of 55 — 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 2026-07-27

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

6

Drugs / clinical candidates · MONDO_0019562

CTD chemicals (MyDisease.info)

19 associated chemicals · 95 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Antilymphocyte Serum · therapeutic
  • Cyclosporine · therapeutic
  • Penicillamine · therapeutic
  • Bromocriptine · marker/mechanism
  • Carboplatin · marker/mechanism
  • Fluorouracil · marker/mechanism
  • Ibuprofen · marker/mechanism
  • Melphalan · marker/mechanism
  • Paclitaxel · marker/mechanism
  • Pentazocine · marker/mechanism
  • Progestins · marker/mechanism
  • Silicon Dioxide · marker/mechanism

Pathways: Antifolate resistance; MAPK signaling pathway; Cytokine-cytokine receptor interaction; NF-kappa B signaling pathway; Sphingolipid signaling pathway; mTOR signaling pathway; PI3K-Akt signaling pathway; Apoptosis

MyDisease.info · MONDO:0019562

Literature

Is anyone studying this?

6,579

6,579 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

6,579 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).

3,455 in the last 10 years · high confidence · 93th percentile (publications denominator)

Phrase hits: 6,572 · MeSH hits: 24

Open Europe PMC search

Who's working on it?

936

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
    Torok KS8 papers · 2026

    Department of Pediatrics (Rheumatology), University of Pittsburgh, Pittsburgh, PA 15224, USA.

    Papers in Europe PMC
  2. 02
    Takahashi T7 papers · 2026

    Department of Dermatology, Shiga University of Medical Science, Otsu, Shiga, Japan.

    Papers in Europe PMC
  3. 03
    Netchiporouk E6 papers · 2026

    Division Dermatology, McGill University Health Centre, Montreal, QC H4A 3J1, Canada.

    Papers in Europe PMC
  4. 04
    Pope E6 papers · 2026

    The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

    Papers in Europe PMC
  5. 05
    Wang X6 papers · 2026

    Department of Dermatology, Zhongshan Hospital of Fudan University, Shanghai, China.

    Papers in Europe PMC
  6. 06
    Laxer RM5 papers · 2026

    The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

    Papers in Europe PMC
  7. 07
    Sibbald C5 papers · 2026

    The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

    Papers in Europe PMC
  8. 08
    Ghazal S4 papers · 2025

    Division Dermatology, McGill University Health Centre, Montreal, QC H4A 3J1, Canada.

    Papers in Europe PMC
  9. 09
    Vleugels RA4 papers · 2026

    Department of Dermatology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

    Papers in Europe PMC
  10. 10
    Zhang Y4 papers · 2026

    College of Pharmacy, Anhui University of Chinese Medicine, No. 350, Long Zi Hu Road, Hefei 230012, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

20

interventional trials for this specific condition

20 interventional trials matched this specific condition name; 2 currently recruiting in our sample. 231 trials are registered for scleroderma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 9 September 2026

20 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.8th percentile).

high confidence · 94.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: scleroderma

231

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

Observational and natural-history studies

7 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched 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 4 · after dedupe 4 · already on CT.gov 0 · kept 1 · parent 0 · uncertain 0 · dropped 3 · fetched 2026-07-27

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

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 Localized scleroderma — 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.

"Localized scleroderma" OR "Localized fibrosing scleroderma" OR "circumscribed scleroderma" OR "localised fibrosing scleroderma" OR "localised scleroderma (disorder) [ambiguous]" OR "localized morphoea" OR "localized scleroderma (disorder) [ambiguous]" OR "morphea"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Scleroderma, Localized

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

"Localized scleroderma" OR "Localized fibrosing scleroderma" OR "circumscribed scleroderma" OR "localised fibrosing scleroderma" OR "localised scleroderma (disorder) [ambiguous]" OR "localized morphoea" OR "localized scleroderma (disorder) [ambiguous]" OR "morphea" OR "Scleroderma, Localized"

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

Study-type breakdown: 20 interventional · 7 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"scleroderma"

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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 2026-07-26T02:20:13.044Z