ORPHA:228254
Elastoma
Also known as: Juvenile elastoma without osteopoikilosis · Nevus elasticus · Weidman juvenile elastoma
Publications
342
71th percentile
Trials
0
Interventional, condition-specific
Researchers
927
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic or acquired, dermis elastic tissue disorder characterized by asymptomatic, solitary or multiple, firm, skin-colored to yellowish papules or nodules of variable size that are disseminated or grouped in clusters and typically located on the trunk, buttocks, thighs or face, among others. Histologically, focal increase of thickened, tortuous elastic fibers in the reticular dermis, without signs of degeneration, is reported. Isolated cases, as well as cases associated with osteopoikilosis (Buschke-Ollendorf syndrome), may be observed.
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:0016442
- UMLS:C0473583
Additional Mondo synonyms (1)
juvenile elastoma without osteopoikilosis
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
342 matched papers (130 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
342
342 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
342 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).
130 in the last 10 years · medium confidence · 71th percentile (publications denominator)
Phrase hits: 342 · MeSH hits: 0
Who's working on it?
927
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Requena L4 papers · 2019
Department of Pathology, Fundación Jiménez Díaz, Universidad Autónoma, Madrid, Spain.
Papers in Europe PMC - 02Zhang X4 papers · 2026
Division of Endocrinology, Tongji Hospital, Huazhong University of Science and Technology.
Papers in Europe PMC - 03Lee SH3 papers · 2016
Department of Dermatology, Dongguk University Ilsan Hospital, Dongguk University College of Medicine, Goyang, Korea.
Papers in Europe PMC - 04Wang Y3 papers · 2024
Department of Pathology and Laboratory Medicine, Rhode Island Hospital and Lifespan Medical Center, Warren Alpert Medical School of Brown University, Providence, RI, USA. yihong_wang@brown.edu.
Papers in Europe PMC - 05Altmeyer P2 papers · 2009Papers in Europe PMC
- 06Ataseven A2 papers · 2014
Department of Dermatology, Konya Education and Research Hospital, Konya, Turkey.
Papers in Europe PMC - 07Chen L2 papers · 2026
Fudan University, Huashan Hospital, Department of Dermatology, 12 Wulumuqi Zhong Road, Jing'an District, Shanghai 200040, People's Republic of China. Electronic address: hschenlianjun@163.com.
Papers in Europe PMC - 08Chen X2 papers · 2026
Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai, China.
Papers in Europe PMC - 09Choi Y2 papers · 2014
Department of Dermatology, Gangnam Severance Hospital, The Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.
Papers in Europe PMC - 10Darling TN2 papers · 2021
Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 on the overview but are not added to the query string.
"Elastoma" OR "Juvenile elastoma without osteopoikilosis" OR "Nevus elasticus" OR "Weidman juvenile elastoma"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Elastoma" OR "Juvenile elastoma without osteopoikilosis" OR "Nevus elasticus" OR "Weidman juvenile elastoma"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
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 2026-07-27T10:05:18.044Z