ORPHA:79501
Punctate palmoplantar keratoderma type 1
Also known as: Buschke-Fischer-Brauer syndrome · Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type · PPKP1
Query health: suspect — Only one of 2 strategies returned hits (phrase).
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.
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=183) is 38.
34 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
25 in the last 10 years · high confidence · 41.8th percentile (publications denominator)
Is a treatment being tested?
2
trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 26 July 2026
0
no matched trials for punctate palmoplantar keratoderma, the broader category this belongs to either
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
2 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 74.7th percentile).
high confidence · 74.7th percentile (trials denominator)
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.
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.
- 01Shen 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 - 02Wan C7 papers · 2025
Department of Molecular, Cellular and Developmental Biology, University of Colorado, Boulder, CO 80309, USA.
Papers in Europe PMC - 03Li S6 papers · 2025
Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Papers in Europe PMC - 04Tian Y6 papers · 2025
Department of Biological Science, Florida State University, Tallahassee, FL 32306, USA.
Papers in Europe PMC - 05Yin 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 - 06Nomura 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 - 07Wang B4 papers · 2025
Department of Biological Science, Florida State University, Tallahassee, FL 32306, USA.
Papers in Europe PMC - 08Yang R4 papers · 2025
Department of Biological Science, Florida State University, Tallahassee, FL 32306, USA.
Papers in Europe PMC - 09Crisman L3 papers · 2023
Department of Molecular, Cellular and Developmental Biology, University of Colorado, Boulder, CO 80309, USA.
Papers in Europe PMC - 10Datta I3 papers · 2023
Department of Molecular, Cellular and Developmental Biology, University of Colorado, Boulder, CO 80309, USA.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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.
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 below 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"
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" OR "hereditary palmoplantar keratoderma"
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.
Cross-references (from Mondo): UMLS:C1835662
Query health: suspect — strategies attempted: phrase, recall-expansion; 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