ORPHA:79502
Punctate palmoplantar keratoderma type 2
Also known as: PPKP2 · PPPP · Porokeratosis punctata palmaris et plantaris · Punctate palmoplantar hyperkeratosis type 2
Publications
77
46.7th percentile
Trials
0
Interventional, condition-specific
Researchers
529
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ('spiny keratosis') on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.
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:0008292
- OMIM:175860
- UMLS:C1867982
Additional Mondo synonyms (1)
punctate palmoplantar hyperkeratosis type 2
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
77 matched papers (46 in last 10 years) Source
- Phenotype characterisedPresent
2 HPO annotations (e.g. Spinous keratoses of palms and soles; Porokeratosis) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPartial
None under the specific name; 2 for broader category punctate palmoplantar keratoderma
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)
2
Associated phenotypes · MONDO:0008292
- Spinous keratoses of palms and soles
- Porokeratosis
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)
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?
77
77 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.
77 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).
46 in the last 10 years · medium confidence · 46.7th percentile (publications denominator)
Phrase hits: 77 · MeSH hits: 0
Who's working on it?
529
Distinct author names in 77 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.
- 01
- 02Krueger JG4 papers · 2023
Laboratory of Investigative Dermatology, Rockefeller University, New York, New York, United States of America.
Papers in Europe PMC - 03Fuentes-Duculan J3 papers · 2017
Laboratory of Investigative Dermatology, Rockefeller University, New York, New York, United States of America.
Papers in Europe PMC - 04Li X3 papers · 2022
Laboratory of Investigative Dermatology, Rockefeller University, New York, New York, United States of America.
Papers in Europe PMC - 05Akiyama M2 papers · 2022
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan. Electronic address: makiyama@med.nagoya-u.ac.jp.
Papers in Europe PMC - 06Bonifacio KM2 papers · 2017
Laboratory of Investigative Dermatology, Rockefeller University, New York, New York, United States of America.
Papers in Europe PMC - 07Chojnacka-Purpurowicz J2 papers · 2022
Department and Clinic of Dermatology, Sexually Transmitted Diseases and Clinical Immunology, Faculty of Medicine, Collegium Medicum, University of Warmia and Mazury in Olsztyn, 10-959 Olsztyn, Poland.
Papers in Europe PMC - 08Costanzo A2 papers · 2024
Dermatology Unit, Department of Biomedical Sciences, Humanitas University, 20072, Pieve Emanuele, Italy. antonio.costanzo@hunimed.eu.
Papers in Europe PMC - 09Cueto I2 papers · 2023
Laboratory of Investigative Dermatology, The Rockefeller University, 1230 York Avenue, New York, NY, 10065 USA.
Papers in Europe PMC - 10Gulekon A2 papers · 2022
Department of Dermatology, Gazi University School of Medicine, 06560 Ankara, Turkey.
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). 2 trials are registered for punctate palmoplantar keratoderma, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
medium confidence · 38.6th 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.
2 interventional trials matched punctate palmoplantar keratoderma, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: punctate palmoplantar keratoderma
2
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. 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 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-30
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 Punctate palmoplantar keratoderma type 2 — check Associations / patient organisations on that page.
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.
"Punctate palmoplantar keratoderma type 2" OR "PPKP2" OR "Porokeratosis punctata palmaris et plantaris" OR "Punctate palmoplantar hyperkeratosis type 2"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Punctate palmoplantar keratoderma type 2" OR "PPKP2" OR "Porokeratosis punctata palmaris et plantaris" OR "Punctate palmoplantar hyperkeratosis type 2"
Study-type breakdown: 0 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
Synonyms dropped by stoplist: PPPP
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T02:31:27.416Z