ORPHA:737
Porokeratosis plantaris palmaris et disseminata
Also known as: Palmar, plantar and disseminated porokeratosis
Publications
27
27th percentile
Trials
0
Interventional, condition-specific
Researchers
112
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic disease which is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually spread to other body zones.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008291
- OMIM:175850
- UMLS:C0162838
Additional Mondo synonyms (3)
palmar, plantar and disseminated porokeratosis · porokeratosis 2, palmar, plantar, and disseminated · porokeratosis plantaris palmaris et disseminata
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
27 matched papers (9 in last 10 years) Source
- Phenotype characterisedPresent
13 HPO annotations (e.g. Abnormality of the plantar skin of foot; Skin plaque; 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; 1 for broader category porokeratosis
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)
13
Associated phenotypes · MONDO:0008291
- Abnormality of the plantar skin of foot
- Skin plaque
- Porokeratosis
- Pruritus
- Abnormality of the lower limb
Showing 5 of 13 — 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)
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?
27
27 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.
27 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).
9 in the last 10 years · high confidence · 27th percentile (publications denominator)
Phrase hits: 27 · MeSH hits: 0
Who's working on it?
112
Distinct author names in 27 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.
- 01Bianchi VG2 papers · 2023
Unità di Dermatologia, IRCCS San Raffaele Hospital, Milan, Prague.
Papers in Europe PMC - 02Braun-Falco O2 papers · 1988Papers in Europe PMC
- 03Di Nicola MR2 papers · 2023
Unità di Dermatologia, IRCCS San Raffaele Hospital, Milan, Prague.
Papers in Europe PMC - 04Donati M2 papers · 2023
Surgical Pathology, Università Campus Bio-Medico di Roma Via Álvaro del Portillo, Rome.
Papers in Europe PMC - 05Knobler RM2 papers · 1991Papers in Europe PMC
- 06Li M2 papers · 2025
Department of Dermatology, The Children's Hospital of Fudan University, Shanghai 201102, China.
Papers in Europe PMC - 07Mercuri SR2 papers · 2023
Unità di Dermatologia, IRCCS San Raffaele Hospital, Milan, Prague.
Papers in Europe PMC - 08Neumann RA2 papers · 1991
Department of Dermatology II, University of Vienna, Austria.
Papers in Europe PMC - 09Paolino G2 papers · 2023
Unità di Dermatologia, IRCCS San Raffaele Hospital, Milan, Prague.
Papers in Europe PMC - 10Abell E1 paper · 1991Papers 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). 1 trial are registered for porokeratosis, 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.
high 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.
1 interventional trial matched porokeratosis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: porokeratosis
1
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 10 · after dedupe 10 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 10 · 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 (10)
- ctis·2026-526961-76-00·Authorised·FLAsH-IV-AML: A phase I/II multi-center study to assess the tolerability and efficacy of the addition of hydroxyurea to salvage treatment with fludarabine, ara-C, idarubicin and venetoclax for adults with relapsed or refractory acute myeloid leukemia
skipped — LLM skipped (--skip-llm)
- ctis·2025-524008-32-00·Authorised·A phase 2a exploratory study of TAR-0520 gel in prevention of Hand and Foot Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-513671-40-00·Authorised, ongoing·VAC-WARTS Efficacy of the nonavalent HPV vaccine in the treatment of difficult-to-treat palmo-plantar warts
skipped — LLM skipped (--skip-llm)
- ctis·2023-507114-27-00·Cancelled·A phase 2, randomised, double-blind, vehicle-controlled, dose finding, efficacy, tolerability and safety study of Victorhy in patients with severe hand hyperhidrosis
skipped — LLM skipped (--skip-llm)
- ctis·2024-518637-28-00·Cancelled·Effects of a single denosumab injection on reduction of total contact cast treatment and consolidation of bone fractures caused by acute Charcot foot in patients with
diabetes mellitus (CHARCOT study)
skipped — LLM skipped (--skip-llm)
- ctis·2023-505810-12-00·Expired·Prospective, randomized, double-blind, placebo-controlled, multicenter study to investigate the efficacy and safety of NT 201 in the treatment of lower limb spasticity caused by stroke or traumatic brain injury in adult subjects, followed by an open label extension with or without combined upper limb treatment
skipped — LLM skipped (--skip-llm)
- ctis·2024-512632-30-00·Authorised, ongoing·A prospective, open-label, genotype-match controlled, multicenter clinical trial to investigate the efficacy and safety of intra-amniotic ER004 as a prenatal treatment for male subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED)
skipped — LLM skipped (--skip-llm)
- ctis·2024-514476-40-00·Authorised, ongoing·Randomized, placebo-controlled, double-blind study to evaluate the efficacy of 2LVERU®JUNIOR and 2LVERU® on the treatment of warts.
skipped — LLM skipped (--skip-llm)
- ctis·2023-503420-19-00·Cancelled·A prospective, randomized, double-blind, placebo-controlled, two-stage, multicenter study with an open-label extension period to investigate the efficacy and safety of NT 201 in the treatment of lower limb spasticity in children and adolescents with cerebral palsy
skipped — LLM skipped (--skip-llm)
- ctis·2023-507859-29-00·Cancelled·A prospective, randomized, double-blind, controlled trial on the application of a 10%-lidocain spray prior to the insertion of a peripheral intra-venous catheter in female adults
skipped — LLM skipped (--skip-llm)
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 Porokeratosis plantaris palmaris et disseminata — 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.
"Porokeratosis plantaris palmaris et disseminata" OR "Palmar, plantar and disseminated porokeratosis" OR "porokeratosis 2, palmar, plantar, and disseminated"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Porokeratosis plantaris palmaris et disseminata" OR "Palmar, plantar and disseminated porokeratosis" OR "porokeratosis 2, palmar, plantar, and disseminated"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"porokeratosis"
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 2026-07-26T15:07:14.205Z