ORPHA:2199
Epidermolytic palmoplantar keratoderma
Also known as: Diffuse erythrodermic palmoplantar keratoderma, Voerner type · Diffuse erythrodermic palmoplantar keratoderma, Vörner type · EPPK · Epidermolytic palmoplantar keratoderma of Voerner · Epidermolytic palmoplantar keratoderma of Vörner
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
452
78.8th percentile
Trials
0
Interventional, condition-specific
Researchers
1,219
Distinct authors in sample
Gene link
KRT9
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, non-syndromic, palmoplantar keratoderma characterized by diffuse, yellowish, thick hyperkeratosis of the palms and soles with a sharp demarcation at the volar border and an erythematous margin, and the epidermolytic pattern of changes on the skin biopsy, including perinuclear vacuolization, granular degeneration of keratinocytes in the spinous and granular layer, and tonofilament aggregates. Painful fissures and hyperhidrosis are frequently associated.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007758
- OMIM:144200
- NCIT:C84693
Additional Mondo synonyms (4)
diffuse erythrodermic palmoplantar keratoderma, VC6rner type · diffuse erythrodermic palmoplantar keratoderma, Voerner type · epidermolytic palmoplantar keratoderma of VC6rner · epidermolytic palmoplantar keratoderma of Voerner
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — KRT9
- LiteraturePresent
452 matched papers (202 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?
Yes — we know a specific gene responsible (KRT9).
GenCC classification: Definitive.
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?
452
452 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.
452 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).
202 in the last 10 years · medium confidence · 78.8th percentile (publications denominator)
Phrase hits: 452 · MeSH hits: 0
Who's working on it?
1,219
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.
- 01Chen XL7 papers · 2018
Department of Biological Chemistry, Zhejiang Chinese Medical University, Hangzhou, Zhejiang, China.
Papers in Europe PMC - 02Zhang XN7 papers · 2018
Department of Cell Biology and Medical Genetics, Research Center for Molecular Medicine, National Education Base for Basic Medical Sciences, Institute of Cell Biology, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Papers in Europe PMC - 03Bariani R4 papers · 2026
Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padova, 35122 Padova, Italy.
Papers in Europe PMC - 04Bauce B4 papers · 2026
Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padova, 35122 Padova, Italy.
Papers in Europe PMC - 05Bunick CG4 papers · 2021
Department of Dermatology, Yale University, New Haven, CT, USA christopher.bunick@yale.edu.
Papers in Europe PMC - 06Du ZF4 papers · 2016
Department of Biochemistry and Genetics, Zhejiang University, Hangzhou Zhejiang, China.
Papers in Europe PMC - 07Eldirany SA4 papers · 2021
Department of Dermatology, Yale University, New Haven, CT, USA.
Papers in Europe PMC - 08Ho M4 papers · 2021
Department of Dermatology, Yale University, New Haven, CT, USA.
Papers in Europe PMC - 09Ke HP4 papers · 2018
Department of Biology, Ningbo College of Health Sciences, Ningbo, Zhejiang, China.
Papers in Europe PMC - 10Kelsell DP4 papers · 2026
Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, England.
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 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.
medium 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.
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.
"Epidermolytic palmoplantar keratoderma" OR "Diffuse erythrodermic palmoplantar keratoderma, Voerner type" OR "Diffuse erythrodermic palmoplantar keratoderma, Vörner type" OR "Epidermolytic palmoplantar keratoderma of Voerner" OR "Epidermolytic palmoplantar keratoderma of the Voerner" OR "Epidermolytic palmoplantar keratoderma of Vörner" OR "Epidermolytic palmoplantar keratoderma of the Vörner" OR "diffuse erythrodermic palmoplantar keratoderma, VC6rner type" OR "epidermolytic palmoplantar keratoderma of VC6rner" OR "epidermolytic palmoplantar keratoderma of the VC6rner"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Epidermolytic palmoplantar keratoderma" OR "Diffuse erythrodermic palmoplantar keratoderma, Voerner type" OR "Diffuse erythrodermic palmoplantar keratoderma, Vörner type" OR "Epidermolytic palmoplantar keratoderma of Voerner" OR "Epidermolytic palmoplantar keratoderma of the Voerner" OR "Epidermolytic palmoplantar keratoderma of Vörner" OR "Epidermolytic palmoplantar keratoderma of the Vörner" OR "diffuse erythrodermic palmoplantar keratoderma, VC6rner type" OR "epidermolytic palmoplantar keratoderma of VC6rner" OR "epidermolytic palmoplantar keratoderma of the VC6rner" OR "KRT9" OR "diffuse palmoplantar keratoderma" OR "palmoplantar keratoderma, epidermolytic" OR "hereditary palmoplantar keratoderma"
Recall-expansion terms: KRT9, diffuse palmoplantar keratoderma, palmoplantar keratoderma, epidermolytic, hereditary palmoplantar keratoderma
Study-type breakdown: 0 interventional · 0 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
Synonyms dropped by stoplist: EPPK
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 2026-07-26T19:26:28.152Z