Punctate acrokeratoderma freckle-like pigmentation
historical
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood
- Status
- historical
A rare epidermal disease characterized by the association of punctate acrokeratoderma with a pigmentary disorder. Patients present skin-colored keratotic papules on the hands and feet and pronounced hyperkeratosis of the palms and soles. Freckle-like pigmentation on the dorsal surfaces of the hands and feet is also reported. Histological examination reveals no fragmentation of dermal elastic tissue. There have been no further descriptions in the literature since 1993.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Punctate acrokeratoderma freckle-like pigmentation | |
| fr | Pigmentation acrokératodermique ponctuée lentigineuse | |
| de | Punktiertes Akrokeratoderm mit Sommersprossen-ähnlicher Pigmentierung | |
| es | Acroqueratodermia punteada con pigmentación similar a pecas | |
| it | Acrocheratodermia puntata con pigmentazione simile alle efelidi | |
| nl | Puntvormige acrokeratodermie met sproetachtige pigmentatie | |
| pt | Acroqueratodermia punctiforme pigmentação tipo sardas | |
| pl | Punktowa akrokeratodermia z pigmentacją o typie piegów | |
| cs | Punctate acrokeratoderma pigmentace podobná pihám | |
| uk | Точкова акрокератодермія веснянкоподібна пігментація | |
| zh | 点状雀斑样色素沉着性肢端角化症 | |
| tr | Noktalı akrokeratoderma çil benzeri pigmentasyon |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L85.8 | NTBT | attributed | validated |
| ICD-11 | ED6Y | NTBT | attributed | validated |
| MONDO | 0036918 | E | validated | |
| UMLS | C5681635 | 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:79356Acrokeratoderma
rare skin diseases - ORPHA:183441Genetic acrokeratoderma
rare genetic 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 | 7 cases | Worldwide | Case(s) | Validated | 8338755[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8338755[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/99710
- This record as JSON: /data/d/99710.json