Hyperkeratosis-hyperpigmentation syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperkeratosis-hyperpigmentation syndrome | |
| fr | Syndrome d'hyperkératose-hyperpigmentation | |
| de | Hyperkeratose-Hyperpigmentierung-Syndrom | |
| es | Síndrome de hiperqueratosis-hiperpigmentación | |
| it | Ipercheratosi - iperpigmentazione | |
| nl | Hyperkeratose-hyperpigmentatie-syndroom | |
| pt | Síndrome de hiperqueratose-hiperpigmentação | |
| pl | Zespół hiperkeratozy i hiperpigmentacji | |
| cs | Syndrom zahrnující hyperkeratózu a hyperpigmentace | |
| uk | Синдром гіперкератозу-гіперпігментації | |
| zh | 角化过度-色素沉着综合征 | |
| tr | Hiperkeratoz-hiperpigmentasyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 144190 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | ED6Y | NTBT | attributed | validated |
| MONDO | 0007757 | E | validated | |
| MeSH | C564172 | E | validated | |
| UMLS | C1840428 | 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 (3):
- ORPHA:308031Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - 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 | 10 cases | Worldwide | Case(s) | Validated | 151611[PMID]_8448904[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_151611[PMID]_8448904[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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000962 | Hyperkeratosis | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0200034 | Papule | |
| Frequent (79-30%) | ||
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0007565 | Multiple cafe-au-lait spots | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1336
- This record as JSON: /data/d/1336.json