Linear and whorled nevoid hypermelanosis
Synonyms: LWNH
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare hyperpigmentation of the skin disease characterized by the congenital to infantile-onset of bilateral, diffuse (occasionally localized), reticulate (swirls and streaks), macular hyperpigmentation following the lines of Blaschko, typically involving the trunk, limbs, head and neck (but sparing palms, soles and mucosa), without preceding inflammation, blistering or atrophy. Occasionally, extracutaneous abnormalities, including autism, seizures, cardiac defects, skeletal abnormalities and developmental delay, may be associated. Histologically, basal and/or suprabasal melanosis, without pigment incontinence, is observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Linear and whorled nevoid hypermelanosis | LWNH |
| fr | Hypermélanose naevoïde linéaire et convolutée | HNLC · Hypermélanose naevoïde linéaire et circulaire · Hypermélanose naevoïde linéaire et spiralée · LWNH |
| de | Hypermelanose, nävoide, streifen- und wirbelförmige | = en |
| es | Hipermelanosis nevoide lineal y en espiral | = en |
| it | Ipermelanosi nevoide lineare e a spirale | |
| nl | Lineaire en spiraalvormige naevoïde hypermelanose | = en |
| pt | Hipermelanose nevóide linear e espiral | |
| pl | Linear and whorled nevoid hypermelanosis | = en |
| cs | Progresivní kribriformní a zosteriformní hyperpigmentace | Lineární a vírovitá névoidní hypermelanóza |
| uk | Лінійний та звивистий невоїдний гіпермеланоз | = en |
| zh | 线状和旋涡状痣样过度黑素沉着病 | = en |
| tr | Lineer ve kıvrımlı nevoid hipermelanoz | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614323 | E | validated | |
| ICD-10 | L81.4 | NTBT | attributed | validated |
| ICD-11 | EC23.0 | NTBT | index | validated |
| MONDO | 0013688 | E | validated | |
| UMLS | C1304501 | E | validated | |
| GARD | 11004 | 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 (2):
- ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin 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 | 16 cases | Worldwide | Case(s) | Validated | 17542865[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 17542865[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79150
- This record as JSON: /data/d/79150.json