Keratoderma hereditarium mutilans
Synonyms: Mutilating keratoderma of Vohwinkel · Mutilating keratoderma plus deafness · Mutilating keratoderma plus hearing loss · PPK mutilans and deafness · PPK mutilans and hearing loss · Vohwinkel syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
Keratoderma hereditarium mutilans is 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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Keratoderma hereditarium mutilans | Mutilating keratoderma of Vohwinkel · Mutilating keratoderma plus deafness · Mutilating keratoderma plus hearing loss · PPK mutilans and deafness · PPK mutilans and hearing loss · Vohwinkel syndrome |
| fr | Kératodermie aïnhumoïde et mutilante | KPP mutilante et surdité · Kératodermie mutilante de Vohwinkel · Kératodermie mutilante et surdité · PPK mutilans et surdité · Syndrome de Vohwinkel |
| de | Keratoderma hereditarium mutilans | PPK mutilans - Schwerhörigkeit · PPK mutilans Vohwinkel · Palmoplantarhyperkeratose Typ mutilans Vohwinkel · Vohwinkel-Syndrom |
| es | Queratodermia hereditaria mutilante | PPK mutilante e hipoacusia · PPK mutilante y sordera · Queratodermia mutilante de Vohwinkel · Queratodermia mutilante más hipoacusia · Queratodermia mutilante más sordera · Síndrome de Vohwinkel |
| it | Cheratoderma mutilante ereditario | Cheratoderma mutilante di Vohwinkel · Cheratoderma mutilante e sordità · PPK mutilans e sordità · Sindrome di Vohwinkel |
| nl | Keratoderma hereditarium mutilans | Mutilerende keratodermie plus doofheid · Mutilerende keratodermie van Vohwinkel · PPK-mutilans en doofheid · Syndroom van Vohwinkel |
| pt | Queratodermia hereditária mutilante | Síndrome Vohvinkel |
| pl | Zespół Vohwinkela | PPK mutilans i głuchota · Rogowiec okaleczający plus głuchota · Rogowiec okaleczający Vohwinkela · Zespół Vohwinkela |
| cs | Hereditární keratoderma mutilans | Vohnwinkelova mutilující keratoderma · Mutilující keratoderma s hluchotou · Mutilující PPK a hluchota · Vohnwinkelův syndrom |
| uk | Спадкова мутилююча кератодермія | Калічаща кератодермія Фогвінкеля · Калічаща кератодермія плюс глухота · Калічить кератодермія плюс втрата слуху · PPK мутиланс і глухота · PPK mutilans та втрата слуху · Синдром Вохвінкеля |
| zh | 残毁性掌跖角皮症 | 残毁性角皮症伴听力损失 |
| tr | Keratoderma hereditarium mutilans | Vohwinkel sendromu · PPK mutilans ve sağırlık · PPK mutilans ve işitme kaybı · Vohwinkel'in keratoderma bozulması · Keratoderma bozulması artı sağırlık · Keratoderma bozulması artı işitme kaybı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 124500 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.30 | NTBT | index | validated |
| MONDO | 0007422 | E | validated | |
| MeSH | C536457 | E | validated | |
| UMLS | C0265964 | E | validated | |
| GARD | 3092 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:307773Autosomal dominant diffuse mutilating palmoplantar keratoderma
rare genetic diseases; rare skin diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GJB2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4284 | ENSG00000165474 | 121011 | 13q12.11 | gap junction protein beta 2 | 20854437[PMID]_22960825[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 19282408[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19282408[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009775 | Amniotic constriction ring | |
| HP:0007460 | Autoamputation of digits | |
| HP:0007465 | Honeycomb palmoplantar keratoderma | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| Occasional (29-5%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0008388 | Abnormal toenail morphology | |
| HP:0002143 | Abnormality of the spinal cord | |
| HP:0001596 | Alopecia | |
| HP:0000175 | Cleft palate | |
| HP:0000365 | Hearing impairment | |
| HP:0008064 | Ichthyosis | |
| HP:0002797 | Osteolysis | |
| HP:0200034 | Papule | |
| HP:0100716 | Self-injurious behavior | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/494
- This record as JSON: /data/d/494.json