Isolated focal non-epidermolytic palmoplantar keratoderma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare hereditary palmoplantar keratoderma characterized by focal hyperkeratotic lesions on the palms and soles. Histopathologic examination reveals prominent hyperkeratosis, thickened stratum spinosum with reduced stratum granulosum, disadhesion of cells in the suprabasal layers, elongation of rete ridges, and sparse lymphocyte infiltration in the dermis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated focal non-epidermolytic palmoplantar keratoderma | |
| fr | Kératodermie palmoplantaire focale non épidermolytique isolée | |
| de | Palmoplantarkeratose, isolierte fokale nichtepidermolytische | |
| es | Queratodermia palmoplantar no epidermolítica focal aislada | |
| it | Cheratoderma palmoplantare non epidermolitico focale isolato | |
| nl | Geïsoleerde focale niet-epidermolytische palmoplantaire keratodermie | |
| pt | Queratodermia palmoplantar não-epidermolítica focal isolada | |
| pl | Ogniskowy rogowiec dłoni i stóp - odmiana nieepidermolityczna | |
| cs | Izolovaná fokální non-epidermolytická palmoplantární keratoderma | |
| uk | Ізольована фокальна неепідермолітична долонно-підошовна кератодермія | |
| zh | 单发的局灶性非表皮溶解的掌跖角化病 | |
| tr | İzole fokal epidermolitik olmayan palmoplantar keratoderma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613000 | BTNT | validated | |
| OMIM | 616400 | BTNT | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.31 | NTBT | attributed | validated |
| MONDO | 0014622 | E | validated | |
| UMLS | C5681107 | 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:307846Isolated focal palmoplantar keratoderma
rare genetic diseases; rare skin diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRPV3 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:18084 | ENSG00000167723 | 607066 | 17p13.2 | transient receptor potential cation channel subfamily V member 3 | 25285920[PMID] |
| KRT16 | Disease-causing germline mutation(s) in | Assessed | HGNC:6423 | ENSG00000186832 | 148067 | 17q21.2 | keratin 16 | 8595410[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 25285920[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25285920[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/448264
- This record as JSON: /data/d/448264.json