Erythrokeratoderma ''en cocardes''
Synonyms: Degos genodermatosis "en cocardes"
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare, genetic, epidermal disorder characterized by intermittent (remitting and recurring), annular, polycyclic, target-like (or 'en cocardes') plaques with concentric rings of scaling erythema occurring on the extremities, flexural areas, and trunk. Concurrent erythrokeratoderma variabilis-like scaly plaques are commonly found in other parts of the body.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Erythrokeratoderma ''en cocardes'' | Degos genodermatosis "en cocardes" |
| fr | Erythrokératodermie en cocardes | Génodermatose "en cocardes" de Degos |
| de | Erythrokeratoderma en cocardes Degos | Erythrokeratodermie mit kokardenförmigen Plaques |
| es | Eritroqueratodermia en escarapela | Eritroqueratodermia en escarapela de Degos |
| it | Eritrocheratodermia a coccarda | Genodermatosi a "coccarda" di Degos · Genodermatosi a coccarda di Degos |
| nl | Erytrokeratodermie 'en cocardes' | Genodermatose 'en cocardes' van Degos |
| pt | Eritroqueratodermia "en cocardes" | Eritroqueratodermia "en cocardes" de Degos · Genodermatose "en cocardes" de Degos |
| pl | Erytrokeratodermia "en cocardes | = en |
| cs | Erythrokeratoderma "en cocardes | Degos genodermatosis "en cocardes |
| uk | Еритрокератодермія en cocardes | Ступінь генодерматозу в кокардах |
| zh | 恶性萎缩性丘疹病 | 坏死性遗传性皮肤病 |
| tr | Eritrokeratoderma '' en cocardes '' | Degos genodermatoz "en cocardes" |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EF5Y | NTBT | attributed | validated |
| MONDO | 0017836 | E | validated | |
| UMLS | C5848050 | E | validated | |
| GARD | 1722 | 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:79355Erythrokeratoderma
rare skin diseases - ORPHA:183438Genetic erythrokeratoderma
rare genetic 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 | <1 / 1 000 000 | — | Europe | Class only | Not yet 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
5 annotations · validated 2018-01-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0000962 | Hyperkeratosis | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0200034 | Papule | |
| Occasional (29-5%) | ||
| HP:0002664 | Neoplasm | |
Run the differential on the 4 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/315
- This record as JSON: /data/d/315.json