ORPHA:352763
Scleredema
Also known as: Buschke scleredema
Publications
840
74.1th percentile
Trials
1
Interventional, condition-specific
Researchers
974
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare acquired skin disease characterized by excessive mucin deposition and thickened collagen bundles in the dermis, resulting in woody, non-pitting induration of the skin of the neck, spreading to the shoulders and upper trunk, but sparing hands and feet. According to the association with preceding or underlying conditions, three types can be distinguished: type 1 usually follows a febrile infection, type 2 is associated with paraproteinemia, and type 3 occurs in patients with diabetes mellitus. Especially in types 2 and 3, extracutaneous involvement may be present. Other potentially associated conditions include a variety of endocrinopathies, systemic diseases, and neoplasms.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0006606
- MeSH:D012592
- UMLS:C0036413
- NCIT:C85057
Additional Mondo synonyms (12)
Buschke's scleredema · Buschkes scleredema · Diabeticorum, scleredema · Diabeticorums, scleredema · scleredema · scleredema Diabeticorum · scleredema Diabeticorum of Buschke · scleredema Diabeticorums · scleredema adultorum · scleredema adultorum of Buschke · scleredema, Buschke's · scleredemas
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
840 matched papers (280 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
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.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
840
840 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.
840 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).
280 in the last 10 years · medium confidence · 74.1th percentile (publications denominator)
Phrase hits: 840 · MeSH hits: 8
Who's working on it?
974
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.
- 01Rongioletti F5 papers · 2022
IRCSS-AOU S. Martino-IST, Department of Health Sciences, DISSAL, Section of Dermatology, University of Genoa, Genoa, Italy.
Papers in Europe PMC - 02Li Y4 papers · 2026
Dongzhimen Hospital, Beijing University of Chinese Medicine, Beijing, China.
Papers in Europe PMC - 03Liu Y4 papers · 2025
Department of Cardiology, Xiyuan Hospital, China Academy of Chinese Medical Sciences, Beijing, China.
Papers in Europe PMC - 04Zhang J4 papers · 2026
West China Biomedical Big Data Center, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Papers in Europe PMC - 05Chatterjee S3 papers · 2018
Departments of Rheumatic and Immunologic Diseases (Chatterjee), and Anatomic Pathology (Prayson), Cleveland Clinic, Cleveland, OH chattes@ccf.org.
Papers in Europe PMC - 06
- 07Foti R3 papers · 2021
Unità Operativa di Reumatologia, Azienda Ospedaliera Universitaria V. Emmanuele, Ferrarotto, S. Bambino Catania, Catania, Italia. rosfoti@tiscali.it
Papers in Europe PMC - 08Guo J3 papers · 2026
West China Biomedical Big Data Center, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Papers in Europe PMC - 09Jalili A3 papers · 2018
Division of Immunology, Allergy and Infectious Diseases, Department of Dermatology, Medical University of Vienna, Vienna, Austria.
Papers in Europe PMC - 10Adam Z2 papers · 2015Papers 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).
medium 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.
Observational and natural-history studies
1 observational study matches 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.
None of the matched observational studies is currently listed as recruiting.
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 Scleredema — check Associations / patient organisations on that page.
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 on the overview but are not added to the query string.
"Scleredema" OR "Buschke scleredema" OR "Buschke's scleredema" OR "Buschkes scleredema" OR "Diabeticorum, scleredema" OR "Diabeticorums, scleredema" OR "scleredema Diabeticorum" OR "scleredema Diabeticorum of Buschke" OR "scleredema Diabeticorum of the Buschke" OR "scleredema Diabeticorums" OR "scleredema adultorum" OR "scleredema adultorum of Buschke" OR "scleredema adultorum of the Buschke" OR "scleredema, Buschke's" OR "scleredemas"
MeSH descriptor terms unioned into the query: Scleredema Adultorum
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Scleredema" OR "Buschke scleredema" OR "Buschke's scleredema" OR "Buschkes scleredema" OR "Diabeticorum, scleredema" OR "Diabeticorums, scleredema" OR "scleredema Diabeticorum" OR "scleredema Diabeticorum of Buschke" OR "scleredema Diabeticorum of the Buschke" OR "scleredema Diabeticorums" OR "scleredema adultorum" OR "scleredema adultorum of Buschke" OR "scleredema adultorum of the Buschke" OR "scleredema, Buschke's" OR "scleredemas"
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 · 1 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
Ingested 2026-07-27T14:22:23.807Z