ORPHA:2199
Epidermolytic palmoplantar keratoderma
Synonyms: Diffuse erythrodermic palmoplantar keratoderma, Voerner type · Diffuse erythrodermic palmoplantar keratoderma, Vörner type · EPPK · Epidermolytic palmoplantar keratoderma of Voerner · Epidermolytic palmoplantar keratoderma of Vörner
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, non-syndromic, hereditary 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epidermolytic palmoplantar keratoderma | Diffuse erythrodermic palmoplantar keratoderma, Voerner type · Diffuse erythrodermic palmoplantar keratoderma, Vörner type · EPPK · Epidermolytic palmoplantar keratoderma of Voerner · Epidermolytic palmoplantar keratoderma of Vörner |
| fr | Kératodermie palmoplantaire épidermolytique | EPPK · Hyperkératose palmoplantaire épidermolytique · KPP épidermolytique · Kératodermie palmoplantaire épidermolytique de Voerner · Kératodermie palmoplantaire épidermolytique de Vörner · Kératodermie palmoplantaire érythrodermique diffuse type Voerner · Kératodermie palmoplantaire érythrodermique diffuse type Vörner |
| de | Epidermolytische palmoplantare Keratose | EPPK · Keratosis palmoplantaris diffusa Vörner · Palmoplantarhyperkeratose Typ Vörner |
| es | Queratodermia palmoplantar epidermolítica | EPPK · Queratodermia palmoplantar epidermolítica tipo Voerner · Queratodermia palmoplantar epidermolítica tipo Vörner · Queratodermia palmoplantar eritrodérmica difusa tipo Voerner · Queratodermia palmoplantar eritrodérmica difusa tipo Vörner |
| it | Cheratoderma palmoplantare epidermolitico | Cheratoderma palmoplantare epidermolitico di Voerner · Cheratoderma palmoplantare epidermolitico di Vörner · Cheratoderma palmoplantare eritrodermico diffuso, tipo Voerner · Cheratoderma palmoplantare eritrodermico diffuso, tipo Vörner · EPPK |
| nl | Epidermolytische palmoplantaire keratodermie | Diffuse erytrodermische palmoplantaire keratodermie, Voerner-type · Diffuse erytrodermische palmoplantaire keratodermie, Vörner-type · EPPK · Epidermolytische keratodermie van handpalm of voetzool · Epidermolytische palmoplantaire keratodermie van Voerner · Epidermolytische palmoplantaire keratodermie van Vörner |
| pt | Queratodermia palmoplantar epidermolítica | Hiperqueratose palmoplantar localizada acantoqueratolítica · Queratodermia palmoplantar epidermolítica tipo Vorner |
| pl | Rogowiec dłoni i stóp – odmiana epidermolityczna | Epidermolityczny rogowiec dłoni i stóp Voerner · Epidermolityczny rogowiec dłoni i stóp Vörnera · EPPK · Rozlany erytrodermalny rogowiec dłoni i stóp, typu Voernera · Rozlany erytrodermalny rogowiec dłoni i stóp, typu Vörnera |
| cs | Epidermolytická palmoplantární keratoderma | EPPK · Voernerova epidermolytická palmoplantární keratoderma · Vörnerova epidermolytická palmoplantární keratoderma · Difuzní erytrodermická palmoplantární keratoderma, Voernerův typ · Difuzní erytrodermická palmoplantární keratoderma, Vörnerův typ |
| uk | Епідермолітична долонно-підошвова кератодермія | Дифузна еритродермічна долонно-підошовна кератодермія, тип Вернера · Дифузна еритродермічна долонно-підошовна кератодермія, тип Вернера · Епідермолітична долонно-підошовна кератодермія Фоєрнера · Епідермолітична долонно-підошовна кератодермія Вернера · EPPK |
| zh | 表皮松解性掌跖角化病 | 弥散性红皮病型掌跖角化病Voerner型 |
| tr | Epidermolitik palmoplantar keratoderma | EPPK · Vörner'in epidermolitik palmoplantar keratoderması · Voerner epidermolitik palmoplantar keratoderması · Yaygın eritrodermik palmoplantar keratoderma, Vörner tipi · Yaygın eritrodermik palmoplantar keratoderma, Voerner tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 144200 | BTNT | validated | |
| OMIM | 620411 | BTNT | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.30 | NTBT | index | validated |
| MONDO | 0007758 | E | validated | |
| MeSH | D053546 | E | validated | |
| UMLS | C1721006 | E | validated | |
| GARD | 2826 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98349Autosomal dominant isolated diffuse palmoplantar keratoderma
rare genetic diseases; rare skin diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:496Thost-Unna palmoplantar keratoderma moved to · inactive
- ORPHA:89833Palmoplantar keratoderma with tonotubular keratin moved to · inactive
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KRT16 | Candidate gene tested in | Assessed | HGNC:6423 | ENSG00000186832 | 148067 | 17q21.2 | keratin 16 | 8595410[PMID] |
| KRT1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:6412 | ENSG00000167768 | 139350 | 12q13.13 | keratin 1 | 16439967[PMID] |
| KRT9 | Disease-causing germline mutation(s) in | Assessed | HGNC:6447 | ENSG00000171403 | 607606 | 17q21.2 | keratin 9 | 12192490[PMID]_12072061[PMID]_23397986[PMID]_24899405[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 4.4 / 100 000 | Ireland | Value and class | Validated | 9856842[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.
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HPO phenotypes
15 annotations · validated 2021-11-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000962 | Hyperkeratosis | |
| HP:0000972 | Palmoplantar hyperkeratosis | |
| Frequent (79-30%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0001217 | Clubbing | |
| HP:0007447 | Diffuse palmoplantar kyperkeratosis | |
| HP:0025092 | Epidermal acanthosis | |
| HP:0001220 | Interphalangeal joint contracture of finger | |
| HP:0032541 | Knuckle pad | |
| HP:0010765 | Palmar hyperkeratosis | |
| Occasional (29-5%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0012385 | Camptodactyly | |
| HP:0025114 | Hypergranulosis | |
| HP:0000975 | Hyperhidrosis | |
| HP:0010830 | Impaired tactile sensation | |
| HP:0010829 | Impaired temperature sensition | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 21176769[PMID]_31525823[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2199
- This record as JSON: /data/d/2199.json