keratoderma hereditarium mutilans
Findings
No curated finding names keratoderma hereditarium mutilans yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.
Definition from the Mondo Disease Ontology (MONDO:0007422), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Honeycomb palmoplantar hyperkeratosisHPOHP:0007465
- 45 of 45 reported patients
- Very frequent (80% to 99% of cases)
- Amniotic constriction ringHPOHP:0009775
- Very frequent (80% to 99% of cases)
- Autoamputation of digitsHPOHP:0007460
- Very frequent (80% to 99% of cases)
- HyperkeratosisHPOHP:0000962
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GJB2HGNC:4284
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: keratoderma hereditarium mutilans
- Also called
- KHMmutilating keratodermamutilating keratoderma of Vohwinkelmutilating keratoderma plus deafnessPPK mutilans and deafnessVohwinkel syndromeVOWNKL