Familial keratoacanthoma
Synonyms: Hereditary keratoacanthoma · Multiple keratoacanthoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare inherited skin cancer syndrome characterized by the coexistence of features typical of both multiple self-healing squamous epithelioma and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial keratoacanthoma | Hereditary keratoacanthoma · Multiple keratoacanthoma |
| fr | Kératoacanthome familial | Kératoacanthome héréditaire · Kératoacanthome multiple |
| de | Keratoakanthom, familiäres | Keratoakanthom, hereditäres · Keratoakanthome, multiple |
| es | Queratoacantoma familiar | |
| it | Cheratoacantoma familiare | Epitelioma multiplo squamoso a guarigione spontanea |
| nl | Familiaal keratoacanthoom | Erfelijk keratoacanthoom · Meervoudig keratoacanthoom |
| pt | Queratoacantoma familiar | Epitelioma escamoso múltiplo de remissão espontânea |
| pl | Rodzinny rogowiak kolczystokomórkowy | Dziedziczny rogowiak kolczystokomórkowy · Mnogi rogowiak kolczystokomórkowy |
| cs | Familiární keratoakantom | Hereditární keratoakantom · Mnohočetný keratoakantom |
| uk | Сімейна кератоакантома | Спадкова кератоакантома · Множинна кератоакантома |
| zh | 家族性角化棘皮瘤 | 遗传性角化棘皮瘤 |
| tr | Ailesel keratoakantom | Çoklu keratoakantom · Kalıtsal keratoakantom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L85.8 | NTBT | attributed | validated |
| ICD-11 | 2C31.1 | NTBT | index | validated |
| MONDO | 0018851 | E | validated | |
| MeSH | C536150 | E | validated | |
| UMLS | C5848325 | 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:183487Genetic skin tumor or hamartoma
rare genetic diseases - ORPHA:79386Rare skin tumor or hamartoma
rare skin diseases; rare neoplastic 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 |
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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009720 | Adenoma sebaceum | |
| HP:0000962 | Hyperkeratosis | |
| HP:0200034 | Papule | |
| HP:0200042 | Skin ulcer | |
| HP:0001482 | Subcutaneous nodule | |
| Frequent (79-30%) | ||
| HP:0012740 | Papilloma | |
| Occasional (29-5%) | ||
| HP:0002664 | Neoplasm | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/493
- This record as JSON: /data/d/493.json