Amyloidosis cutis dyschromia
Synonyms: Amyloidosis cutis dyschromica
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Amyloidosis cutis dyschromia | Amyloidosis cutis dyschromica |
| fr | Amylose cutanée dyschromique | |
| de | Amyloidosis cutis dyschromica | |
| es | Amiloidosis cutánea discrómica | |
| it | Amiloidosi cutanea discromica | |
| nl | Amyloidosis cutis dyschromia | = en |
| pt | Amiloidose com discromia cutânea | |
| pl | Amyloidoza skórna z dyschromią | = en |
| cs | Amyloidosis cutis dyschromia | = en |
| uk | Дисхромія при амілоїдозі кутикули | Дисхромічний амілоїдоз шкіри |
| zh | 皮肤淀粉样变性 | 皮肤异色病样淀粉样变 |
| tr | Amiloidoz kutis diskromi | Amiloidoz kutis diskromika |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617920 | E | validated | |
| ICD-10 | E85.4+ | NTBT | attributed | validated |
| ICD-10 | L99.0* | NTBT | attributed | validated |
| ICD-11 | 5D00.Y | NTBT | attributed | validated |
| MONDO | 0017906 | E | validated | |
| UMLS | C4554601 | 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:137807Primary cutaneous amyloidosis
rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GPNMB | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4462 | ENSG00000136235 | 604368 | 7p15.3 | glycoprotein nmb | 29336782[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 27 cases | Worldwide | Case(s) | Validated | 24746296[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24746296[PMID] |
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/319635
- This record as JSON: /data/d/319635.json