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ORPHA:38

Acrokeratoelastoidosis of Costa

medium confidenceDisorder

Also known as: AKE · PPKP3 · Punctate palmoplantar hyperkeratosis type 3 · Punctate palmoplantar keratoderma type 3

Publications

24

25.8th percentile

Trials

0

Interventional, condition-specific

Researchers

132

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare punctate palmoplantar keratoderma characterized by multiple small, round to oval or rhomboid, yellowish, hyperkeratotic papules and plaques most commonly localized to the palms of the hands and soles of the feet, potentially extending to the dorsum of the hands and feet in severe cases. Histopathological analysis shows hyperkeratosis, epidermal hypertrophy, and fragmentation and rarefaction of elastic fibers. The condition can be sporadic or familial.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

acrokeratoelastoidosis of Costa · ake · keratoderma, palmoplantar, punctate type 3 · punctate palmoplantar hyperkeratosis type 3 · punctate palmoplantar keratoderma type 3

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.”

2/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    24 matched papers (8 in last 10 years) Source

  3. Phenotype characterisedPresent

    14 HPO annotations (e.g. Orthokeratosis; Palmar hyperhidrosis; Fragmented elastic fibers in the dermis) 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

14

Associated phenotypes · MONDO:0007047

  • Orthokeratosis
  • Palmar hyperhidrosis
  • Fragmented elastic fibers in the dermis
  • Hyperkeratotic papule
  • Granulomatosis

Showing 5 of 14 — 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?

24

24 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.

24 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).

8 in the last 10 years · medium confidence · 25.8th percentile (publications denominator)

Phrase hits: 24 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

132

Distinct author names in 24 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.

  1. 01
    Akiyama M2 papers · 2017

    Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, Japan, 466-8560.

    Papers in Europe PMC
  2. 02
    Adya KA1 paper · 2021

    Department of Dermatology, Venereology and Leprosy, Shri B. M. Patil Medical College, Hospital and Research Center, BLDE (Deemed to be University), Vijayapur, Karnataka, India.

    Papers in Europe PMC
  3. 03
    Antonio JR1 paper · 2014

    Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto, SP, Brazil.

    Papers in Europe PMC
  4. 04
    Aromolo IF1 paper · 2023

    Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

    Papers in Europe PMC
  5. 05
    Bai Y1 paper · 2024

    Shanghai Skin Disease Hospital, School of Medicine, Tongji Medical University, Shanghai, China.

    Papers in Europe PMC
  6. 06
    Barton GJ1 paper · 2012
    Papers in Europe PMC
  7. 07
    Batra A1 paper · 1997
    Papers in Europe PMC
  8. 08
    Bengtson C1 paper · 2019

    PLASMANT, Chemistry Department, University of Antwerp, 2610 Antwerp, Belgium.

    Papers in Europe PMC
  9. 09
    Benkalfat MR1 paper · 1993
    Papers in Europe PMC
  10. 10
    Betti R1 paper · 1994
    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).

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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Acrokeratoelastoidosis of Costa — 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.

("Acrokeratoelastoidosis of Costa" OR "Acrokeratoelastoidosis of the Costa" OR "PPKP3" OR "Punctate palmoplantar hyperkeratosis type 3" OR "Punctate palmoplantar keratoderma type 3" OR "keratoderma, palmoplantar, punctate type 3")

Run this search on Europe PMC

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

"Acrokeratoelastoidosis of Costa" OR "Acrokeratoelastoidosis of the Costa" OR "PPKP3" OR "Punctate palmoplantar hyperkeratosis type 3" OR "Punctate palmoplantar keratoderma type 3" OR "keratoderma, palmoplantar, punctate type 3"

Study-type breakdown: 0 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

Synonyms dropped by stoplist: AKE

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 2026-07-26T12:11:31.118Z