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ORPHA:494

Keratoderma hereditarium mutilans

medium confidenceDisorder

Also known as: Mutilating keratoderma of Vohwinkel · Mutilating keratoderma plus deafness · Mutilating keratoderma plus hearing loss · PPK mutilans and deafness · PPK mutilans and hearing loss · Vohwinkel syndrome

Publications

366

74.7th percentile

Trials

1

Interventional, condition-specific

Researchers

1,030

Distinct authors in sample

Gene link

GJB2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail or clubbing, spastic paraplegia and may also be associated.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

KHM · VOWNKL · keratoderma hereditarium mutilans · mutilating keratoderma · mutilating keratoderma of Vohwinkel · mutilating keratoderma plus deafness

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — GJB2

  2. LiteraturePresent

    366 matched papers (158 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (GJB2).

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?

366

366 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.

366 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).

158 in the last 10 years · medium confidence · 74.7th percentile (publications denominator)

Phrase hits: 366 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,030

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Wang Y7 papers · 2026

    Department of Hospitalization Management, PLA General Hospital, Do. 28 Fuxing Road, Beijing 100853, China.

    Papers in Europe PMC
  2. 02
    Li M5 papers · 2026

    Department of Dermatology, Children's Hospital of Fudan University, Shanghai, 200032, China.

    Papers in Europe PMC
  3. 03
    Chen X4 papers · 2024

    Department of Otolaryngology-Head and Neck Surgery, 74713Lanzhou University Second Hospital, Lanzhou, China.

    Papers in Europe PMC
  4. 04
    Liu Y4 papers · 2024

    Department of Surgery, Division of Plastic and Reconstructive Surgery, Cooper University Hospital, Robert Wood Johnson Medical School, University of Medicine and Dentistry of New Jersey, 3 Cooper Plaza, Suite 411, Camden, NJ 08103 USA.

    Papers in Europe PMC
  5. 05
    Martin PE4 papers · 2021

    Department of Biological and Biomedical Sciences, School of Health and Life Sciences, Glasgow Caledonian University, Glasgow G4 0BA, UK.

    Papers in Europe PMC
  6. 06
    Munro CS4 papers · 2015

    Alan Lyell Centre for Dermatology, Southern General Hospital, Glasgow, U.K.

    Papers in Europe PMC
  7. 07
    Wang Z4 papers · 2023

    Department of Dermatology, Shandong Provincial Hospital affiliated to Shandong University, Jinan, China.

    Papers in Europe PMC
  8. 08
    Zhang L4 papers · 2023

    Department of Dermatology, Shandong Provincial Hospital affiliated to Shandong University, Jinan, China.

    Papers in Europe PMC
  9. 09
    Chen N3 papers · 2023

    Department of Dermatology, Shandong Provincial Hospital affiliated to Shandong University, Jinan, China.

    Papers in Europe PMC
  10. 10
    Deng L3 papers · 2026

    Department of Prenatal Diagnosis Center, Gansu Provincial Maternity and Child-care Hospital, Lanzhou, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

3 observational studies match 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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Keratoderma hereditarium mutilans" OR "Mutilating keratoderma of Vohwinkel" OR "Mutilating keratoderma of the Vohwinkel" OR "Mutilating keratoderma plus deafness" OR "Mutilating keratoderma plus hearing loss" OR "PPK mutilans and deafness" OR "PPK mutilans and hearing loss" OR "Vohwinkel syndrome" OR "VOWNKL" OR "mutilating keratoderma"

Run this search on Europe PMC

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

"Keratoderma hereditarium mutilans" OR "Mutilating keratoderma of Vohwinkel" OR "Mutilating keratoderma of the Vohwinkel" OR "Mutilating keratoderma plus deafness" OR "Mutilating keratoderma plus hearing loss" OR "PPK mutilans and deafness" OR "PPK mutilans and hearing loss" OR "Vohwinkel syndrome" OR "VOWNKL" OR "mutilating keratoderma" OR "GJB2"

Recall-expansion terms: GJB2

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: KHM

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 2026-07-26T14:02:06.778Z