Acromelanosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare pigmentation anomaly of the skin characterized by otherwise asymptomatic hyperpigmentation of the skin over the dorsal side of fingers and toes which may rapidly spread towards proximal regions, like genitals, abdomen, and thighs. It is mostly seen in newborns or during the first years of life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acromelanosis | |
| fr | Acromélanose | |
| de | Akromelanose | |
| es | Acromelanosis | |
| it | Acromelanosi | |
| nl | Acromelanosis | |
| pt | Acromelanose | |
| pl | Melanoza kończyn | |
| cs | Akromelanóza | |
| uk | Акромеланоз | |
| zh | 肢端黑变病 | |
| tr | Akromelanoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L81.4 | NTBT | attributed | validated |
| ICD-11 | ED6Y | NTBT | attributed | validated |
| MONDO | 0018311 | E | validated | |
| UMLS | C0406779 | E | validated | |
| GARD | 4500 | 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: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 | 10 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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/39
- This record as JSON: /data/d/39.json