Generalized eruptive keratoacanthoma
Synonyms: GEKA · Generalized eruptive keratoacanthomas of Grzybowski · Grzybowski syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Generalized eruptive keratoacanthoma | GEKA · Generalized eruptive keratoacanthomas of Grzybowski · Grzybowski syndrome |
| fr | Kératoacanthome éruptif généralisé | GEKA · Kératoacanthome éruptif généralisé de Grzybowski · Syndrome de Grzybowski |
| de | Keratoakanthom, eruptives generalisiertes | |
| es | Queratoacantoma eruptivo generalizado | GEKA · Queratoacantoma eruptivo generalizado de Grzybowski · Síndrome de Grzybowski |
| it | Cheratoacantoma eruttivo generalizzato | Cheratoacantomi eruttivi generalizzati di Grzybowski · GEKA · Sindrome di Grzybowski |
| nl | Gegeneraliseerd eruptief keratoacanthoom | GEKA · Gegeneraliseerde eruptieve keratoacanthomen van Grzybowski · Grzybowskisyndroom |
| pt | Queratoacantoma eruptivo generalizado | |
| pl | Uogólniony rozsiany rogowiak kolczystokomórkowy | GEKA · Uogólniony rozsiany rogowiak kolczystokomórkowy Grzybowskiego · Zespół Grzybowskiego |
| cs | Generalizovaný eruptivní keratoakantom | GEKA · Generalizovaný eruptivní keratoakantom Grzybowského · Grzybowského syndrom |
| uk | Генералізована еруптивна кератоакантома | GEKA · Генералізована еруптивна кератоакантома Гжибовського · Синдром Гжибовського |
| zh | 广泛爆发性角棘皮瘤 | 格里波夫斯基全身性爆发性角棘皮瘤 |
| tr | Jeneralize erüptif keratoakantom | GEKA · Grzybowski sendromu · Grzybowski'nin jeneralize eruptif keratoakantomları |
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 | 0018471 | E | validated | |
| UMLS | C0345985 | 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: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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 25070745[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25070745[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
8 annotations · validated 2016-12-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000656 | Ectropion | |
| HP:0200034 | Papule | |
| HP:0000989 | Pruritus | |
| Occasional (29-5%) | ||
| HP:0000481 | Abnormal cornea morphology | |
| HP:0000509 | Conjunctivitis | |
| HP:0002015 | Dysphagia | |
| HP:0001609 | Hoarse voice | |
| HP:0001097 | Keratoconjunctivitis sicca | |
Annotation source: 14594609[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/411777
- This record as JSON: /data/d/411777.json