Ringed hair disease
Synonyms: Pili annulati
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Childhood
- Status
- active
A rare isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or, very rarely, beard, axillary, or pubic hair. Hair is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ringed hair disease | Pili annulati |
| fr | Maladie des cheveux annelés | = en |
| de | Ringelhaare | = en |
| es | Enfermedad del cabello ensortijado | pili annulati |
| it | Pili annulati | Peli anulati |
| nl | Ringed hair-ziekte | = en |
| pt | Síndrome cabelo anelar | = en |
| pl | Włosy obrączkowate | = en |
| cs | Nemoc kroužkovitých vlasů | = en |
| uk | Хвороба кільцеподібного волосся | = en |
| zh | 环纹发病 | 环状发 |
| tr | Halkalı saç hastalığı | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 180600 | E | validated | |
| ICD-10 | Q84.1 | NTBT | index | validated |
| ICD-11 | EC21.0 | NTBT | index | validated |
| MONDO | 0008388 | E | validated | |
| MeSH | C537187 | E | validated | |
| UMLS | C0263489 | E | validated | |
| GARD | 4359 | 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:79366Isolated hair shaft abnormality
rare genetic diseases; 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
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0002213 | Fine hair | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/169
- This record as JSON: /data/d/169.json