Keratoderma hereditarium mutilans

General Information (adopted from Orphanet):

Synonyms, Signs: MUTILATING KERATODERMA
KERATODERMA HEREDITARIUM MUTILANS
KHM
Mutilating keratoderma plus deafness
vohwinkel syndrome
PPK mutilans and deafness
Mutilating keratoderma of Vohwinkel
Number of Symptoms 25
OrphanetNr: 494
OMIM Id: 124500
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant diffuse mutilating palmoplantar keratoderma
 -Rare genetic disease
 -Rare skin disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
2
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
3
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
4
 (HPO:0100716) Self-injurious behavior Occasional [Orphanet] 43 / 7739
5
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
6
 (HPO:0002797) Osteolysis Occasional [Orphanet] 68 / 7739
7
 (HPO:0003468) Abnormality of the vertebrae Occasional [Orphanet] 77 / 7739
8
 (HPO:0007460) Autoamputation of digits 1 / 7739
9
 (HPO:0001218) Autoamputation 10 / 7739
10
 (HPO:0002763) Abnormal cartilage morphology Very frequent [Orphanet] 15 / 7739
11
 (HPO:0009775) Amniotic constriction ring 21 / 7739
12
 (HPO:0008064) Ichthyosis Occasional [Orphanet] 108 / 7739
13
 (HPO:0007465) Honeycomb palmoplantar keratoderma 2 / 7739
14
 (HPO:0001597) Abnormality of the nail Occasional [Orphanet] 115 / 7739
15
 (HPO:0001596) Alopecia Occasional [Orphanet] 162 / 7739
16
 (HPO:0001805) Thick nail Occasional [Orphanet] 96 / 7739
17
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
18
 (OMIM) Starfish-like acral keratoses (knuckles) 1 / 7739
19
 (OMIM) Circular constrictions of digits (pseudoainhum) 1 / 7739
20
 (OMIM) Papular keratoderma, mild 1 / 7739
21
 (OMIM) Hearing loss, mild to moderate 1 / 7739
22
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
23
 (HPO:0030350) Erythematous papule Occasional [Orphanet] 123 / 7739
24
 (OMIM) Honeycomb keratoderma 1 / 7739
25
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Nockemann (1961) presented 4 generations of a family in which 4 members had hyperkeratosis, constrictions on the fingers and toes (pseudoainhum), and congenital deafness. The proband, a 20-year-old man, developed hyperkeratosis of the palms and soles beginning about ...
Molecular genetics OMIM Maestrini et al. (1999) described a missense mutation, D66H, in the GJB2 gene (121011.0012) in affected members of a large British pedigree, and subsequently in affected individuals from 2 unrelated Spanish and Italian pedigrees. In these cases, mutilating ...