Diffuse palmoplantar keratoderma with painful fissures
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, isolated palmoplantar keratoderma characterized by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Diffuse palmoplantar keratoderma with painful fissures | |
| fr | Kératodermie palmoplantaire diffuse avec fissures douloureuses | |
| de | Diffuse Palmoplantarkeratose mit schmerzhaften Fissuren | |
| es | Queratodermia palmoplantar difusa con fisuras dolorosas | |
| it | Cheratoderma palmoplantare diffuso con fissurazioni dolorose | |
| nl | Diffuse palmoplantaire keratodermie met pijnlijke fissuren | |
| pt | Queratodermia palmoplantar difusa com fissuras dolorosas | |
| pl | Rozlany rogowiec dłoniowo-podeszwowy z bolesnymi pęknięciami | |
| cs | Difuzní palmoplantární keratoderma s bolestivými fisurami | |
| uk | Дифузна долонно-підошовна кератодермія з болючими тріщинами | |
| zh | 弥漫性掌跖角化病伴疼痛性裂隙 | |
| tr | Ağrılı fisür ile seyreden yaygın palmoplantar keratoderma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 148700 | NTBT | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.30 | NTBT | attributed | validated |
| MONDO | 0018250 | E | validated | |
| UMLS | C4755309 | 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:98349Autosomal dominant isolated diffuse palmoplantar keratoderma
rare genetic diseases; rare skin diseases
No children.
Genes
1 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 | 15897387[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 15897387[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/369999
- This record as JSON: /data/d/369999.json