ORPHA:498359
Aquagenic palmoplantar keratoderma
Also known as: Aquagenic keratoderma · Aquagenic syringeal acrokeratoderma · Aquagenic wrinkling of the palms · Transient reactive papulotranslucent acrokeratoderma
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
261
73.2th percentile
Trials
0
Interventional, condition-specific
Researchers
791
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare skin disease characterized by transient wrinkling of the skin, edema, formation of whitish papules, pruritus, burning sensation, or pain, on the palms and/or soles in response to contact with water. Duration of exposure and water temperature affect the rate of development and intensity of the lesions. The condition is more common in females than in males and frequently occurs in patients with cystic fibrosis.
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:0044663
- UMLS:C4087301
Additional Mondo synonyms (5)
aquagenic keratoderma · aquagenic palmoplantar keratoderma · aquagenic syringeal acrokeratoderma · aquagenic wrinkling of the palms · transient reactive papulotranslucent acrokeratoderma
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
261 matched papers (145 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
261
261 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=5449) is 41.
261 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
145 in the last 10 years · high confidence · 73.2th percentile (publications denominator)
Phrase hits: 261 · MeSH hits: 0
Who's working on it?
791
Distinct author names in 200 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.
- 01Woo SB6 papers · 2022
Department of Oral Medicine, Infection and Immunity, Harvard School of Dental Medicine, Boston, MA, USA.
Papers in Europe PMC - 02Girodon E5 papers · 2024
Molecular Genetics Laboratory, Cochin Hospital, APHP.Centre-Université de Paris, 75014 Paris, France.
Papers in Europe PMC - 03Bienvenu T4 papers · 2023
Molecular Genetics Laboratory, Cochin Hospital, APHP.Centre-Université de Paris, 75014 Paris, France.
Papers in Europe PMC - 04Alexopoulos A3 papers · 2026
First Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, Aghia Sofia' Children's Hospital, Athens, Greece.
Papers in Europe PMC - 05Bygum A3 papers · 2025
Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.
Papers in Europe PMC - 06Chouliaras G3 papers · 2026
First Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, Aghia Sofia' Children's Hospital, Athens, Greece.
Papers in Europe PMC - 07Cinotti E3 papers · 2024
Dermatology Unit, Department of Medical, Surgical and Neurosciences, University of Siena, Siena, Italy.
Papers in Europe PMC - 08Darlenski R3 papers · 2021
Department of Dermatology and Venereology, Acibadem City Clinic, Tokuda Hospital, Sofia, Bulgaria; Department of Dermatology and Venereology, Medical Faculty, Trakia University, Stara Zagora, Bulgaria. Electronic address: Darlenski@abv.bg.
Papers in Europe PMC - 09Durmaz EÖ3 papers · 2023
School of Medicine, Acıbadem University, Istanbul, Turkey.
Papers in Europe PMC - 10Kanaka-Gantenbein C3 papers · 2026
First Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, Aghia Sofia' Children's Hospital, Athens, Greece.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT06831110·RECRUITING·Aquagenic Wrinkling Prediction
Conditions: Aquagenic Wrinkling of Palms · Carrier State·Matched via name phrase
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 on the overview but are not added to the query string.
"Aquagenic palmoplantar keratoderma" OR "Aquagenic keratoderma" OR "Aquagenic syringeal acrokeratoderma" OR "Aquagenic wrinkling of the palms" OR "Aquagenic wrinkling of palms" OR "Transient reactive papulotranslucent acrokeratoderma"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Aquagenic palmoplantar keratoderma" OR "Aquagenic keratoderma" OR "Aquagenic syringeal acrokeratoderma" OR "Aquagenic wrinkling of the palms" OR "Aquagenic wrinkling of palms" OR "Transient reactive papulotranslucent acrokeratoderma" OR "palmoplantar keratosis"
Recall-expansion terms: palmoplantar keratosis
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
Ingested 2026-07-27T17:38:15.915Z