Dermatopathia pigmentosa reticularis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, ectodermal dysplasia characterized by a widespread, early-onset, reticulate hyperpigmentation that persists throughout life, mild, diffuse non-cicatricial alopecia, and onychodystrophy. There are no dental anomalies. Patients may also present with adermatoglyphia, palmoplantar hyperkeratosis, acral dorsal blistering, and hypohidrosis or hyperhidrosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dermatopathia pigmentosa reticularis | |
| fr | Dermatopathie réticulaire pigmentaire | |
| de | Dermatopathia pigmentosa reticularis | |
| es | Dermatopatía pigmentosa reticularis | |
| it | Dermatopatia reticolare pigmentosa | |
| nl | Dermatopathia pigmentosa reticularis | |
| pt | Dermatopatia pigmentosa reticular | |
| pl | Dermopatia barwnikowo-siateczkowa | |
| cs | Dermopathia pigmentosa reticularis | |
| uk | Ретикулярна пігментна дерматопатія | |
| zh | 网状色素性皮病 | |
| tr | Dermatopati pigmentosa retikülaris |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 125595 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | attributed | validated |
| MONDO | 0007445 | E | validated | |
| MeSH | C535374 | E | validated | |
| UMLS | C0406778 | E | validated | |
| GARD | 8550 | 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 (4):
- ORPHA:98352Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KRT14 | Disease-causing germline mutation(s) in | Assessed | HGNC:6416 | ENSG00000186847 | 148066 | 17q21.2 | keratin 14 | 16960809[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 27512211[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27512211[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/86920
- This record as JSON: /data/d/86920.json