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ORPHA:220393

Diffuse cutaneous systemic sclerosis

medium confidenceSubtype of disorder

Also known as: Diffuse cutaneous systemic scleroderma · Progressive cutaneous systemic scleroderma · Progressive cutaneous systemic sclerosis

Publications

1,578

93.6th percentile

Trials

42

Interventional, condition-specific

Researchers

1,381

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).

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 (4)

dSSc · diffuse cutaneous systemic scleroderma · progressive cutaneous systemic scleroderma · progressive cutaneous systemic sclerosis

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

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

    1,578 matched papers (1,191 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 trialPresent

    42 matched on ClinicalTrials.gov (11 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)

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?

1,578

1,578 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=5449) is 41.

1,578 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).

1,191 in the last 10 years · medium confidence · 93.6th percentile (publications denominator)

Phrase hits: 1,578 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,381

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
    Khanna D17 papers · 2026

    Division of Rheumatology of Department of Medicine, University of Michigan, Ann Arbor, MI USA.

    Papers in Europe PMC
  2. 02
    Denton CP14 papers · 2026

    Centre for Rheumatology, University College London, London, UK.

    Papers in Europe PMC
  3. 03
    Distler O10 papers · 2026

    Department of Rheumatology, University Hospital Zurich, University of Zurich, Zurich, Switzerland.

    Papers in Europe PMC
  4. 04
    Kuwana M8 papers · 2026

    Department of Allergy and Rheumatology, Nippon Medical School Graduate School of Medicine.

    Papers in Europe PMC
  5. 05
    Furst DE7 papers · 2025

    Rheumatology, Univ of Cal at Los Angeles, Los Angeles, California, USA.

    Papers in Europe PMC
  6. 06
    Matucci-Cerinic M7 papers · 2026

    Department of Experimental and Clinical Medicine, University of Florence, and Division of Rheumatology AOUC, Florence, and Unit of Immunology, Rheumatology, Allergy and Rare Diseases (UnIRAR), IRCCS San Raffaele Hospital, Milan, Italy.

    Papers in Europe PMC
  7. 07
    Smith V7 papers · 2025

    Department of Internal Medicine and Department of Rheumatology, Ghent University (Hospital), Ghent, Belgium; Unit for Molecular Immunology and Inflammation, VIB Inflammation Research Centre, Ghent, Belgium.

    Papers in Europe PMC
  8. 08
    Stevens W7 papers · 2025

    University of Melbourne, St. Vincent's Hospital, Melbourne, Australia.

    Papers in Europe PMC
  9. 09
    Baron M6 papers · 2026

    McGill University, Jewish General Hospital, Montreal, Canada. Electronic address: murray.baron.med@ssss.gouv.qc.ca.

    Papers in Europe PMC
  10. 10
    Foocharoen C6 papers · 2026

    Division of Rheumatology, Department of Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen 40002, Thailand.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

42

interventional trials for this specific condition

42 interventional trials matched this specific condition name; 11 currently recruiting in our sample. 374 trials are registered for systemic sclerosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

42 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.7th percentile).

medium confidence · 96.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: systemic sclerosis

374

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

3 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

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.

"Diffuse cutaneous systemic sclerosis" OR "Diffuse cutaneous systemic scleroderma" OR "Progressive cutaneous systemic scleroderma" OR "Progressive cutaneous systemic sclerosis"

Run this search on Europe PMC

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

"Diffuse cutaneous systemic sclerosis" OR "Diffuse cutaneous systemic scleroderma" OR "Progressive cutaneous systemic scleroderma" OR "Progressive cutaneous systemic sclerosis"

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: 42 interventional · 3 observational · 1 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"systemic sclerosis"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: dSSc

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T09:52:55.089Z