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ORPHA:659

Mutilating palmoplantar keratoderma with periorificial keratotic plaques

medium confidenceDisorder

Also known as: Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques · Olmsted syndrome · Palmoplantar and periorificial keratoderma

Publications

348

71.6th percentile

Trials

1

Interventional, condition-specific

Researchers

946

Distinct authors in sample

Gene link

—

Readiness

4/6

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.

Orphanet entry

Cross-references

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

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.”

4/6 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

    348 matched papers (245 in last 10 years) Source

  3. Phenotype characterisedPresent

    61 HPO annotations (e.g. Osteolysis; Melanoma; Neoplasm of the skin) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPartial

    2 EMA designations (none yet with FDA orphan-indication approval) — e.g. (R)-(3-(2'-cyclopropyl-3-(hydroxymethyl)-[1,1'-biphenyl]-4-yl)pyrrolidin-1-yl)(5-hydroxy-6-methylpyridin-2-yl)methanone Source

  6. 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)

61

Associated phenotypes · MONDO:0031421

  • Osteolysis
  • Melanoma
  • Neoplasm of the skin
  • Anhidrosis
  • Abnormal fingernail morphology

Showing 5 of 61 — 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)

2

Designations · no FDA orphan-indication approval yet

  • EMA (R)-(3-(2'-cyclopropyl-3-(hydroxymethyl)-[1,1'-biphenyl]-4-yl)pyrrolidin-1-yl)(5-hydroxy-6-methylpyridin-2-yl)methanoneTreatment of Olmsted syndrome · 26/02/2025 · PositiveEMA designation
  • EMA (R)-(3-(2'-cyclopropyl-3-(hydroxymethyl)-[1,1'-biphenyl]-4-yl) pyrrolidin-1-yl)(5-fluoropyridin-2-yl)methanoneTreatment of Olmsted syndrome · 13/10/2023 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

348 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).

245 in the last 10 years · medium confidence · 71.6th percentile (publications denominator)

Phrase hits: 348 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Yang Y13 papers · 2025

    Department of Dermatology, Peking University First Hospital, Beijing, PR China.

    Papers in Europe PMC
  2. 02
    Zhang J8 papers · 2025

    Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

    Papers in Europe PMC
  3. 03
    Hovnanian 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
  4. 04
    Wang K7 papers · 2025

    Department of Pharmacology, School of Pharmacy, Qingdao University, Qingdao, China wangkw@qdu.edu.cn.

    Papers in Europe PMC
  5. 05
    Hu 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
  6. 06
    Lin 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
  7. 07
    Sun X6 papers · 2025

    Department of Pharmacology, School of Pharmacy, Qingdao University, Qingdao, China.

    Papers in Europe PMC
  8. 08
    Wang 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
  9. 09
    Wang 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
  10. 10
    Bodemer 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 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.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

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 (1)

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 Mutilating palmoplantar keratoderma with periorificial keratotic plaques — 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.

"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"

Run this search on Europe PMC

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