Primary essential cutis verticis gyrata
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult
- Status
- active
Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary essential cutis verticis gyrata | |
| fr | Pachydermie vorticellée primaire essentielle du cuir chevelu | Pachydermie plicaturée primaire essentielle du cuir chevelu |
| de | Primäre Cutis verticis gyrata, essentielle | |
| es | Cutis verticis gyrata primaria esencial | |
| it | Cutis verticis girata essenziale primitiva | |
| nl | Primaire essentiële cutis verticis gyrata | |
| pt | Cutis girata do vértice, essencial primária | |
| pl | Pierwotna istotna skóra kręta ciemienia | |
| cs | Primární esenciální cutis verticis gyrata | |
| uk | Первинна есенціальна складчаста пахідермія | |
| zh | 原发性原位性脑回状头皮 | |
| tr | Primer temel cutis verticis gyrata |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EE7Y | NTBT | index | validated |
| MONDO | 0018167 | E | validated | |
| UMLS | C4707327 | 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:671Primary cutis verticis gyrata
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 |
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/357220
- This record as JSON: /data/d/357220.json