ORPHA:90289
Localized scleroderma
Also known as: Localized fibrosing scleroderma
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.
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=183) is 38.
6,579 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
3,455 in the last 10 years · high confidence · 98.6th percentile (publications denominator)
Is a treatment being tested?
20
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 26 July 2026
231
trials for scleroderma, the broader category this belongs to
Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.
20 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 90.8th percentile).
high confidence · 90.8th percentile (trials denominator)
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.
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.
- 01Torok KS8 papers · 2026
Department of Pediatrics (Rheumatology), University of Pittsburgh, Pittsburgh, PA 15224, USA.
Papers in Europe PMC - 02Takahashi T7 papers · 2026
Department of Dermatology, Shiga University of Medical Science, Otsu, Shiga, Japan.
Papers in Europe PMC - 03Netchiporouk E6 papers · 2026
Division Dermatology, McGill University Health Centre, Montreal, QC H4A 3J1, Canada.
Papers in Europe PMC - 04Pope E6 papers · 2026
The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
Papers in Europe PMC - 05Wang X6 papers · 2026
Department of Dermatology, Zhongshan Hospital of Fudan University, Shanghai, China.
Papers in Europe PMC - 06Laxer RM5 papers · 2026
The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
Papers in Europe PMC - 07Sibbald C5 papers · 2026
The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
Papers in Europe PMC - 08Ghazal S4 papers · 2025
Division Dermatology, McGill University Health Centre, Montreal, QC H4A 3J1, Canada.
Papers in Europe PMC - 09Vleugels RA4 papers · 2026
Department of Dermatology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Papers in Europe PMC - 10Zhang Y4 papers · 2026
College of Pharmacy, Anhui University of Chinese Medicine, No. 350, Long Zi Hu Road, Hefei 230012, China.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
20 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07292961·Investigating the Effectiveness of the Biopsychosocial Model-Based Exercise Approach in Children and Adults Diagnosed With Scleroderma
- NCT06646146·Study on the Efficacy of Autologous Fat Grafting in Improving Hair Transplantation Outcomes for Patients With Localized Scleroderma-Related Alopecia
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
- NCT01808937·Morphea in Adults and Children (MAC) Cohort Study: A Morphea Registry and DNA Repository
- NCT06847750·Elastography Ultrasound in Localized Scleroderma (Morphea) Study
- NCT07182981·Patients Diagnosed With Scleroderma and Their Chewing and Swallowing Performance
- NCT07183072·Patients Diagnosed With Scleroderma: Physical Performance and Functionality
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 2026-07-26This 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 below 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"
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.
Cross-references (from Mondo): MESH:D012594 UMLS:C0036420 NCIT:C72069
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