Hereditary painful callosities
Synonyms: PPK nummularis · Plamoplantar hyperkeratosis nummularis · Plamoplantar keratoderma nummularis · Keratosis palmoplantaris nummularis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- No data available
- Status
- active
A rare focal palmoplantar keratoderma disorder characterized by the development of thick, painful, non-erythematous, nummular keratotic lesions over pressure points of feet and possibly hands. Occasionally, knee and shin involvement, periungual/subungual hyperkeratoses, and blistering at the edge of the calluses, may be observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary painful callosities | PPK nummularis · Plamoplantar hyperkeratosis nummularis · Plamoplantar keratoderma nummularis · Keratosis palmoplantaris nummularis |
| fr | Callosités douloureuses héréditaires | Hyperkératose palmoplantaire nummulaire · KPP nummulaire · Kératodermie palmoplantaire nummulaire · PPK nummulaire |
| de | Hautschwielen, hereditäre schmerzhafte | Keratosis palmoplantaris nummularis · PPK nummularis · PPK nummularis Typ Wachters |
| es | Callosidades dolorosas hereditarias | Hiperqueratosis palmoplantar numular · PPK numular · Queratodermia palmoplantar numular · Queratosis palmoplantar numular |
| it | Callosità dolorose ereditarie | Cheratoderma palmoplantare nummulare · Ipercheratosi palmoplantare nummulare · Keratosis palmoplantaris nummularis · PPK nummulare |
| nl | Erfelijke pijnlijke eeltplekken | Keratosis palmoplantaris nummularis · PPK nummularis · Palmoplantaire hyperkeratosis nummularis · Palmoplantaire keratodermie nummularis |
| pt | Calosidades dolorosas hereditária | Queratose palmo-plantar numular |
| pl | Dziedziczne bolesne stwardnienie skóry | Hiperkeratoza dłoni i stóp pieniążkowata · PPK nummularis · Rogowacenie dłoni i stóp pieniążkowate · Rogowiec dłoni i stóp pieniążkowaty |
| cs | Numulární (penízková) palmoplantární keratóza | Hereditární bolestivé otlaky · PPK nummularis · Palmoplantární hyperkeratosis nummularis · Palmoplantární keratoderma nummularis |
| uk | Спадкові болючі мозолі | Кератоз долонь пальмоплантаріс нуммуляріс · Пламоплантарний гіперкератоз нуммулярний · Пламоплантарна нуммулярна кератодермія · PPK nummularis |
| zh | 遗传性疼痛性胼胝 | 钱币状掌跖角化过度 |
| tr | Kalıtsal ağrılı nasırlıklar | PPK nummularis · Keratoz palmoplantaris nummularis · Plamoplantar keratoderma nummularis · Plamoplantar hiperkeratozis nummularis |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 114140 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.31 | NTBT | index | validated |
| MONDO | 0007248 | E | validated | |
| MeSH | C566180 | E | validated | |
| UMLS | C1861964 | 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 (1):
- ORPHA:307846Isolated focal palmoplantar keratoderma
rare genetic diseases; rare skin diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 646376[PMID]_3812560[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_646376[PMID]_3812560[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
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012531 | Pain | |
| HP:0005588 | Patchy palmoplantar keratoderma | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79141
- This record as JSON: /data/d/79141.json