Striate palmoplantar keratoderma
Synonyms: Keratosis palmoplantaris striata · Keratosis palmoplantaris striata et areata · Keratosis palmoplantaris varians of Wachters
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Striate palmoplantar keratoderma | Keratosis palmoplantaris striata · Keratosis palmoplantaris striata et areata · Keratosis palmoplantaris varians of Wachters |
| fr | Kératodermie palmoplantaire striée ou en bandes | Hyperkératose palmoplantaire striée ou en bandes · Hyperkératose palmoplantaire type Wachters · KPP striée ou en bandes · Kératodermie palmoplantaire type Wachters · PPK striée ou en bandes |
| de | Keratosis palmoplantaris striata | Keratosis palmoplantaris striata et areata · Keratosis palmoplantaris varians Wachters |
| es | Queratodermia palmoplantar estriada | Queratosis palmoplantar estriada · Queratosis palmoplantar estriada y areata · Queratosis palmoplantar varians de Wachters |
| it | Cheratoderma palmoplantare striato | |
| nl | Keratosis palmoplantaris striata | Keratosis palmoplantaris varians van Wachters · Keratosis palmoplantaris striata et areata |
| pt | Queratodermia palmoplantar estriada | |
| pl | Pasmowaty rogowiec dłoni i stóp | Rogowiec dłoni i stóp wariant Wachtersa |
| cs | Keratosis palmoplantaris striata | Keratosis palmoplantaris striata et areata · Wachtersova keratosis palmoplantaris varians · Striatární palmoplantární keratoderma |
| uk | Смугаста долонно-підошвова кератодермія | Кератоз долоневої пластинки смугастий · Кератоз долонь смугастий та ареальний · Кератоз пальмоплантаріс варіацій Вахтерса |
| zh | 条纹状掌跖角化病 | Wachter型变异型掌跖角化病 |
| tr | Çizgili palmoplantar keratoderma | Keratoz palmoplantaris striata · Keratoz palmoplantaris striata ve areata · Wachters keratoz palmoplantaris çeşitleri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 148700 | NTBT | validated | |
| OMIM | 607654 | BTNT | validated | |
| OMIM | 612908 | BTNT | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.31 | NTBT | index | validated |
| MONDO | 0018865 | E | validated | |
| UMLS | C4707237 | 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
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DSG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3048 | ENSG00000134760 | 125670 | 18q12.1 | desmoglein 1 | 10332028[PMID]_19157795[PMID] |
| DSP | Disease-causing germline mutation(s) in | Assessed | HGNC:3052 | ENSG00000096696 | 125647 | 6p24.3 | desmoplakin | 9887343[PMID] |
| KRT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6412 | ENSG00000167768 | 139350 | 12q13.13 | keratin 1 | 11982762[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 cases | Worldwide | Case(s) | Validated | 19018793[PMID]_19157795[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 19018793[PMID]_19157795[PMID]_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
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000982 | Palmoplantar keratoderma | |
| Frequent (79-30%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0001595 | Abnormality of the hair | |
Run the differential on the 1 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/50942
- This record as JSON: /data/d/50942.json