Angora hair nevus
Synonyms: Schauder syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare nevus disorder characterized by the presence of epidermal nevi consisting of depigmented hypertrichosis manifesting with long, soft, white hair which grows from dilated follicles and follows Blaschko's lines, typically located on the scalp, neck, face, trunk and/or limbs. Association with hyperpigmented, hyperkeratotic linear epidermal nevi, macrocephaly, body asymmetry, sacral pit and koilonychia, as well as skeletal, ocular, and neurological abnormalities, has also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Angora hair nevus | Schauder syndrome |
| fr | Syndrome de Schauder | Naevus à poils angora |
| de | Angorahaar-Naevus | Schauder-Syndrom |
| es | Nevo de pelo de Angora | Síndrome de Schauder |
| it | Nevo a pelo d'angora | Sindrome di Schauder |
| nl | Angorahaarnaevus | Syndroom van Schauder |
| pt | Angora, nevo capilar | |
| pl | Znamię z włosami typu angora | Zespół Schaudera |
| cs | Angora hair névus | Schauderové syndrom |
| uk | Ангорський волосяний невус | Синдром Шаудера |
| zh | 安哥拉发痣 | Schauder综合征 |
| tr | Angora saç nevüsü | Schauder sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.5 | NTBT | attributed | validated |
| ICD-11 | LC00.0 | NTBT | attributed | validated |
| MONDO | 0018258 | E | validated | |
| UMLS | C4751601 | 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:294057Rare nevus
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 | 2 cases | Worldwide | Case(s) | Validated | 23858341[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | 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/370039
- This record as JSON: /data/d/370039.json