Porokeratosis plantaris palmaris et disseminata
Synonyms: Palmar, plantar and disseminated porokeratosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, X-linked dominant
- Age of onset
- Adolescent, Adult
- Status
- active
A rare genetic disease which is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually spread to other body zones.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Porokeratosis plantaris palmaris et disseminata | Palmar, plantar and disseminated porokeratosis |
| fr | Porokératose palmoplantaire et disséminée | Porokératose palmaire, plantaire et disséminée |
| de | Porokeratosis plantaris palmaris et disseminata | |
| es | Poroqueratosis palmar, plantar y diseminada | |
| it | Porocheratosi palmoplantare e disseminata | |
| nl | Porokeratosis plantaris palmaris et disseminata | Palmaire, plantaire en gedissemineerde porokeratose |
| pt | Poroqueratose palmo-plantar e disseminada | |
| pl | Rogowacenie kanalikowate dłoni, podeszw i rozsiane | Rogowacenie kanalikowate dłoni, podeszw i rozsiane |
| cs | Porokeratosis plantaris palmaris et disseminata | Palmární, plantární a diseminovaná porokeratóza |
| uk | Порокератоз долонний та підошовний дисемінований | Долонний, підошовний і поширений порокератоз |
| zh | 播散性掌跖汗管角化 | 掌跖散发性汗孔角化病 |
| tr | Porokeratoz plantaris palmaris et disseminata | Palmar, plantar ve yaygın porokeratoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 175850 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.32 | NTBT | index | validated |
| MONDO | 0008291 | E | validated | |
| UMLS | C0162838 | 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 (3):
- ORPHA:183444Genetic porokeratosis
rare genetic diseases - ORPHA:2338Isolated punctate palmoplantar keratoderma
rare genetic diseases; rare skin diseases - ORPHA:79358Porokeratosis
rare skin diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_Pr KANITAKIS Jean[EXPERT] |
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
10 annotations · validated 2021-08-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0100872 | Abnormality of the plantar skin of foot | |
| HP:0040211 | Abnormality of the skin of the palm | |
| HP:0025528 | Annular cutaneous lesion | |
| HP:0045059 | Hyperkeratotic papule | |
| HP:0000972 | Palmoplantar hyperkeratosis | |
| HP:0200044 | Porokeratosis | |
| HP:0200035 | Skin plaque | |
| Occasional (29-5%) | ||
| HP:0002814 | Abnormality of the lower limb | |
| HP:0011354 | Generalized abnormality of skin | |
| HP:0000989 | Pruritus | |
Annotation source: 21929548[PMID]_33491095[PMID]_12932230[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/737
- This record as JSON: /data/d/737.json