Reticulate acropigmentation of Kitamura
Synonyms: RAK
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare, genetic, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Reticulate acropigmentation of Kitamura | RAK |
| fr | Acropigmentation réticulée de Kitamura | |
| de | Retikuläre Hyperpigmentierung vom Typ Kitamura | = en |
| es | Acropigmentación reticulada de Kitamura | = en |
| it | Acropigmentazione reticolata di Kitamura | |
| nl | Reticulaire acropigmentatie van Kitamura | = en |
| pt | Acropigmentação reticulada de Kitamura | |
| pl | Siateczkowata akropigmentacja Kitamura | RAPK |
| cs | Acropigmentatio reticularis Kitamura | RAPK |
| uk | Ретикулярна акропігментація Кітамури | = en |
| zh | 北村网状肢端色素沉着症 | = en |
| tr | Kitamura'nın ağsı akropigmentasyonu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615537 | E | validated | |
| ICD-10 | L81.8 | NTBT | attributed | validated |
| ICD-11 | EC23.Y | NTBT | attributed | validated |
| MONDO | 0014234 | E | validated | |
| UMLS | C0406811 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADAM10 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:188 | ENSG00000137845 | 602192 | 15q21.3 | ADAM metallopeptidase domain 10 | 23666529[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 130 cases | Worldwide | Case(s) | Validated | 23666529[PMID] | |
| 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/178307
- This record as JSON: /data/d/178307.json