Punctate palmoplantar keratoderma type 2
Synonyms: PPKP2 · PPPP · Porokeratosis punctata palmaris et plantaris · Punctate palmoplantar hyperkeratosis type 2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ('spiny keratosis') on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Punctate palmoplantar keratoderma type 2 | PPKP2 · PPPP · Porokeratosis punctata palmaris et plantaris · Punctate palmoplantar hyperkeratosis type 2 |
| fr | Kératodermie palmoplantaire ponctuée type 2 | Hyperkératose palmoplantaire ponctuée type 2 · KPPP2 · PPKP2 · PPPP · Porokeratosis punctata palmaris et plantaris |
| de | Palmoplantarkeratose, punktierte, Typ 2 | Hypokeratose, palmoplantare punktierte, Typ 2 · PPKP2 · PPPP · Porokeratosis punctata palmaris et plantaris |
| es | Queratodermia palmoplantar punctata tipo 2 | Hiperqueratosis palmoplantar punctata tipo 2 · PPKP2 · PPPP · Poroqueratosis punctata palmar y plantar · Poroqueratosis punctata palmaris y plantaris |
| it | Cheratoderma palmoplantare puntato tipo 2 | Ipercheratosi palmoplantare puntata, tipo 2 · PPKP2 · PPPP · Porocheratosi puntata palmare e plantare |
| nl | Keratoderma palmoplantaris punctata type 2 | PPKP2 · PPPP · Porokeratosis punctata palmaris et plantaris · Puntvormige hyperkeratose van handpalm of voetzool type 2 · Puntvormige palmoplantaire hyperkeratose type 2 · Puntvormige palmoplantaire keratodermie type 2 |
| pt | Queratodermia palmoplantar punctiforme tipo 2 | Hiperqueratose palmoplantar punctiforme tipo 2 · PPKP2 · PPPP · Poroqueratose punctiforme palmar e plantar |
| pl | Punktowy rogowiec dłoniowo-podeszwowy typu 2 | PPKP2 · PPPP · Punktowa hiperkeratoza dłoni i stóp typu 2 · Punktowe rogowacenie dłoniowo-podeszwowe typu 2 |
| cs | Keratoderma palmoplantaris punctata, typ 2 | PPKP2 · PPPP · Tečkovaná palmoplantární hyperkeratóza |
| uk | Точкова долонно-підошовна кератодермія, тип 2 | Порокератоз долонної та підошовної частини пальців · PPKP2 · PPPP · Точковий долонно-підошовний гіперкератоз 2 типу |
| zh | 点状掌跖角皮病2型 | 点状掌跖角皮病2型 |
| tr | Punktat palmoplantar keratoderma tip 2 | PPPP · PPKP2 · Punktata palmoplantar hiperkeratoz tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 175860 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.32 | NTBT | index | validated |
| MONDO | 0008292 | E | validated | |
| MeSH | C536338 | E | validated | |
| UMLS | C1867982 | E | validated | |
| GARD | 4439 | 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:2338Isolated punctate palmoplantar keratoderma
rare genetic diseases; rare skin diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:736Palmoplantar porokeratosis of Mantoux moved to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 2525006[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2525006[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79502
- This record as JSON: /data/d/79502.json