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ORPHA:220402

Limited cutaneous systemic sclerosis

low confidenceSubtype of disorder

Also known as: Limited cutaneous systemic scleroderma

Publications

1,668

Trials

10

Interventional, condition-specific

Researchers

1,240

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

limited cutaneous systemic scleroderma · limited scleroderma

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

    1,668 matched papers (1,028 in last 10 years) Source

  3. Phenotype characterisedPresent

    15 HPO annotations (e.g. Narrow foramen obturatorium; Pulmonary arterial hypertension; Abnormality of the skin) 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

    10 matched on ClinicalTrials.gov (3 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)

15

Associated phenotypes · MONDO:0016358

  • Narrow foramen obturatorium
  • Pulmonary arterial hypertension
  • Abnormality of the skin
  • Abnormal skin pigmentation
  • Hypopigmented skin patches

Showing 5 of 15 — 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_0016358

CTD chemicals (MyDisease.info)

2 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Fluorouracil · marker/mechanism
  • Pentazocine · marker/mechanism

MyDisease.info · MONDO:0016358

Literature

Is anyone studying this?

1,668

1,668 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.

1,668 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).

1,028 in the last 10 years · low confidence

Phrase hits: 1,666 · MeSH hits: 7

Open Europe PMC search

Who's working on it?

1,240

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
    Campochiaro C6 papers · 2026

    Unit of Immunology, Rheumatology, Allergy and Rare Diseases (UnIRAR), IRCCS San Raffaele Hospital, Vita-Salute San Raffaele University, Milan, Italy.

    Papers in Europe PMC
  2. 02
    Denton CP6 papers · 2026

    Center for Rheumatology, Royal Free London NHS Foundation Trust Hospital.

    Papers in Europe PMC
  3. 03
    Del Galdo F5 papers · 2026

    School of Medicine, University of Leeds, Leeds, UK.

    Papers in Europe PMC
  4. 04
    Khanna D5 papers · 2025

    Scleroderma Program, University of Michigan, Ann Arbor, Michigan, USA.

    Papers in Europe PMC
  5. 05
    Smith V5 papers · 2025

    Department of Internal Medicine and Department of Rheumatology Ghent University Hospital Ghent Belgium.

    Papers in Europe PMC
  6. 06
    Brodmann M4 papers · 2026

    Division of Angiology, Department of Internal Medicine, Medical University of Graz, Graz, Austria.

    Papers in Europe PMC
  7. 07
    Hafner F4 papers · 2026

    Division of Angiology, Department of Internal Medicine, Medical University of Graz, Graz, Austria.

    Papers in Europe PMC
  8. 08
    Jud P4 papers · 2026

    Division of Angiology, Department of Internal Medicine, Medical University of Graz, Graz, Austria.

    Papers in Europe PMC
  9. 09
    Liu X4 papers · 2026

    The First Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, China. Electronic address: drlxh@foxmail.com.

    Papers in Europe PMC
  10. 10
    Matucci-Cerinic M4 papers · 2026

    Unit of Immunology, Rheumatology, Allergy and Rare Diseases (UnIRAR), IRCCS San Raffaele Hospital, Vita-Salute San Raffaele University, Milan, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

10

interventional trials for this specific condition

10 interventional trials matched this specific condition name; 3 currently recruiting in our sample. 409 trials are registered for systemic sclerosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

10 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92.5th percentile).

low confidence · 92.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: systemic sclerosis

409

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

5 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 31 · after dedupe 31 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 31 · 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).

Uncertain / not reviewed (31)

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 Limited cutaneous systemic sclerosis — 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.

"Limited cutaneous systemic sclerosis" OR "Limited cutaneous systemic scleroderma" OR "limited scleroderma"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Scleroderma, Limited

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

"Limited cutaneous systemic sclerosis" OR "Limited cutaneous systemic scleroderma" OR "limited scleroderma" OR "Scleroderma, Limited"

Interventional trials matched via: 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: 10 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"systemic sclerosis"

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
  • Publication count (1668) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T09:53:09.895Z