ORPHA:659
Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Also known as: Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques · Olmsted syndrome · Palmoplantar and periorificial keratoderma
Publications
348
81.7th percentile
Trials
1
Interventional, condition-specific
Researchers
946
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0031421
- UMLS:C0406761
Additional Mondo synonyms (3)
mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques · palmoplantar and periorificial keratoderma · palmoplantar keratoderma, mutilating, with periorificial keratotic plaques
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
348 matched papers (245 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 trialPresent
1 matched on ClinicalTrials.gov (1 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?
348
348 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.
348 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).
245 in the last 10 years · medium confidence · 81.7th percentile (publications denominator)
Phrase hits: 348 · MeSH hits: 0
Who's working on it?
946
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.
- 01Yang Y13 papers · 2025
Department of Dermatology, Peking University First Hospital, Beijing, PR China.
Papers in Europe PMC - 02Zhang J8 papers · 2025
Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Papers in Europe PMC - 03Hovnanian A7 papers · 2026
Institut National de la Santé et de la Recherche Médicale, U781, Paris, France2Université Paris Descartes-Sorbonne Paris Cité, Paris, France3Institut Imagine, Paris, France9Department of Genetics, Necker-Enfants Malades Hospital, Assistance Publique-Hôpit.
Papers in Europe PMC - 04Wang K7 papers · 2025
Department of Pharmacology, School of Pharmacy, Qingdao University, Qingdao, China wangkw@qdu.edu.cn.
Papers in Europe PMC - 05Hu L6 papers · 2025
Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Disease, Beijing, China; Peking-Tsinghua Center for Life Sciences, Beijing, China; Academy for Advanced Interdisciplinary Studies, Peking University, Beijing, China.
Papers in Europe PMC - 06Lin Z6 papers · 2025
Department of Dermatology, Peking University First Hospital, Beijing, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China. Electronic address: zhimiaolin@bjmu.edu.cn.
Papers in Europe PMC - 07Sun X6 papers · 2025
Department of Pharmacology, School of Pharmacy, Qingdao University, Qingdao, China.
Papers in Europe PMC - 08Wang H6 papers · 2025
Department of Dermatology, Peking University First Hospital, Beijing, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China; Peking-Tsinghua Center for Life Sciences, Beijing, China; Academy for Advanced Interdisciplinary Studies, Peking University, Beijing, China.
Papers in Europe PMC - 09Wang X6 papers · 2025
Department of Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University, 157 Xiwu Road, Xi'an, 710004, China. wxpdoctor@mail.xjtu.edu.cn.
Papers in Europe PMC - 10Bodemer C5 papers · 2022
Université Paris Descartes-Sorbonne Paris Cité, Paris, France3Institut Imagine, Paris, France7Department of Dermatology, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France8National Reference Centre for Genodermatoses (MA.
Papers 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; 1 currently recruiting in our sample.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th 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.
- NCT07090889·RECRUITING·Study of KM-023 in Healthy Volunteers and Patients With Olmsted Syndrome.
Conditions: Olmsted Syndrome·Matched via name phrase
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.
"Mutilating palmoplantar keratoderma with periorificial keratotic plaques" OR "Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques" OR "Olmsted syndrome" OR "Palmoplantar and periorificial keratoderma" OR "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Mutilating palmoplantar keratoderma with periorificial keratotic plaques" OR "Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques" OR "Olmsted syndrome" OR "Palmoplantar and periorificial keratoderma" OR "palmoplantar keratoderma, mutilating, with periorificial keratotic plaques"
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: 1 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (348) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T14:47:53.302Z