Woolly hair nevus
Synonyms: Wooly hair nevus
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Woolly hair nevus | Wooly hair nevus |
| fr | Cheveux laineux sur naevus | |
| de | Wollhaarnaevus | |
| es | Nevo de cabello lanoso | Nevo de pelo lanoso |
| it | Nevo con capelli lanosi | |
| nl | Wollig haar-naevus | |
| pt | Nevo piloso lanoso | |
| pl | Znamię z włosami wełnistymi | = en |
| cs | Névus s rounovitými vlasy | Lokalizovaná forma rounovitých vlasů |
| uk | Шерстистий волосяний невус | Шерстистий волосяний невус |
| zh | 羊毛状发痣 | 羊毛状发痣 |
| tr | Kıllı saç nevüsü | Kıllı saçlı nevüsü |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 162900 | NTBT | validated | |
| ICD-10 | Q82.5 | NTBT | attributed | validated |
| ICD-11 | LC01 | NTBT | index | validated |
| MONDO | 0019311 | E | validated | |
| UMLS | C0343114 | E | validated | |
| GARD | 13025 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HRAS | Disease-causing somatic mutation(s) in | Assessed | HGNC:5173 | ENSG00000174775 | 190020 | 11p15.5 | HRas proto-oncogene, GTPase | 24129065[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 24129065[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 24129065[PMID]_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
12 annotations · validated 2022-11-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002212 | Curly hair | |
| HP:0002213 | Fine hair | |
| HP:0011365 | Patchy hypopigmentation of hair | |
| HP:0040149 | Woolly scalp hair | |
| Frequent (79-30%) | ||
| HP:0007534 | Congenital posterior occipital alopecia | |
| HP:0034275 | Verrucous epidermal nevus | |
| Occasional (29-5%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0011387 | Enlarged vestibular aqueduct | |
| HP:0001100 | Heterochromia iridis | |
| HP:0009917 | Persistent pupillary membrane | |
| HP:0006304 | Widely-spaced incisors | |
| Very rare (<4-1%) | ||
| HP:0000826 | Precocious puberty | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 32155026[PMID]_24261737[PMID]_26622156[PMID]_23621149[PMID]_29267480[PMID]_20464096[PMID]_34601768[PMID]_24129065[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79414
- This record as JSON: /data/d/79414.json