Primary cutis verticis gyrata
- Type
- Clinical group
- Group
- Group of disorders
- Age of onset
- All ages
- Status
- active
A progressive cutaneous disorder predominantly affecting males, characterized by hypertrophy and thickening of the skin of the scalp, forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. It can be isolated or associated with other abnormalities, such as intellectual deficit, epilepsy, cataract, blindness, and deafness.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary cutis verticis gyrata | |
| fr | Pachydermie vorticellée primaire du cuir chevelu | Pachydermie plicaturée primaire du cuir chevelu |
| de | Cutis verticis gyrata, primäre | |
| es | Cutis verticis gyrata primaria | |
| it | Cutis verticis gyrata primitiva | |
| nl | Primaire cutis verticis gyrata | |
| pt | Cutis verticis gyrata primária | |
| pl | Pierwotna skóra kręta ciemienia | |
| cs | Primární cutis verticis gyrata | |
| uk | Складчаста пахідермія первинна | |
| zh | 原发性回状颅皮 | |
| tr | Primer cutis verticis gyrata |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | EE7Y | NTBT | index | validated |
| MONDO | 0019033 | E | validated | |
| MONDO | 19033 | E | validated | |
| UMLS | C0263417 | E | validated | |
| GARD | 1643 | E | validated | |
| MedDRA | 10080996 | 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:79381Other dermis disorder
rare skin diseases
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 | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/671
- This record as JSON: /data/d/671.json