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ORPHA:79501

Punctate palmoplantar keratoderma type 1

high confidenceDisorder

Also known as: Buschke-Fischer-Brauer syndrome · Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type · PPKP1

Publications

34

38.7th percentile

Trials

2

Interventional, condition-specific

Researchers

216

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type

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.”

3/6 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

    34 matched papers (25 in last 10 years) Source

  3. Phenotype characterisedPresent

    33 HPO annotations (e.g. Hypergranulosis; Epidermal acanthosis; Abnormal hair morphology) Source

  4. Animal modelNot found

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

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    2 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)

33

Associated phenotypes · MONDO:0019332

  • Hypergranulosis
  • Epidermal acanthosis
  • Abnormal hair morphology
  • Abnormal nail morphology
  • Abnormal dental morphology

Showing 5 of 33 — 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 2026-07-27

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.

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?

34

34 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.

34 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).

25 in the last 10 years · high confidence · 38.7th percentile (publications denominator)

Phrase hits: 34 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

216

Distinct author names in 34 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
    Shen J7 papers · 2025

    Department of Molecular, Cellular and Developmental Biology, University of Colorado, Boulder, CO 80309, USA. Electronic address: jingshi.shen@colorado.edu.

    Papers in Europe PMC
  2. 02
    Wan C7 papers · 2025

    Department of Molecular, Cellular and Developmental Biology, University of Colorado, Boulder, CO 80309, USA.

    Papers in Europe PMC
  3. 03
    Li S6 papers · 2025

    Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.

    Papers in Europe PMC
  4. 04
    Tian Y6 papers · 2025

    Department of Biological Science, Florida State University, Tallahassee, FL 32306, USA.

    Papers in Europe PMC
  5. 05
    Yin Q6 papers · 2025

    Department of Biological Science, Florida State University, Tallahassee, FL 32306, USA; Institute of Molecular Biophysics, Florida State University, Tallahassee, FL 32306, USA. Electronic address: yin@bio.fsu.edu.

    Papers in Europe PMC
  6. 06
    Nomura T5 papers · 2021

    Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West, Kita-ku, Sapporo 060-8638, Japan. toshifuminomura@hotmail.com, nomura@huhp.hokudai.ac.jp.

    Papers in Europe PMC
  7. 07
    Wang B4 papers · 2025

    Department of Biological Science, Florida State University, Tallahassee, FL 32306, USA.

    Papers in Europe PMC
  8. 08
    Yang R4 papers · 2025

    Department of Biological Science, Florida State University, Tallahassee, FL 32306, USA.

    Papers in Europe PMC
  9. 09
    Crisman L3 papers · 2023

    Department of Molecular, Cellular and Developmental Biology, University of Colorado, Boulder, CO 80309, USA.

    Papers in Europe PMC
  10. 10
    Datta I3 papers · 2023

    Department of Molecular, Cellular and Developmental Biology, University of Colorado, Boulder, CO 80309, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 9 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

high confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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.

Broader category: punctate palmoplantar keratoderma

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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 1 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-27

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

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 Punctate palmoplantar keratoderma type 1 — 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.

"Punctate palmoplantar keratoderma type 1" OR "Buschke-Fischer-Brauer syndrome" OR "Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type" OR "PPKP1"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Punctate palmoplantar keratoderma type 1" OR "Buschke-Fischer-Brauer syndrome" OR "Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type" OR "PPKP1"

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: 2 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"punctate palmoplantar keratoderma"

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

Ingested 2026-07-26T01:43:27.558Z