Diffuse palmoplantar keratoderma-acrocyanosis syndrome
Synonyms: Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Diffuse palmoplantar keratoderma-acrocyanosis syndrome | Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome |
| fr | Syndrome de kératodermie palmoplantaire diffuse-acrocyanose | Syndrome d'hyperkératose palmoplantaire diffuse-acrocyanose |
| de | Diffuse palmoplantare Keratose-Akrozyanose-Syndrom | Palmoplantarkeratose, diffuse - Akrozyanose |
| es | Síndrome de queratodermia palmoplantar difuso-acrocianosis | Síndrome de hiperqueratosis palmoplantar difuso-acrocianosis |
| it | Sindrome cheratoderma palmoplantare diffuso-acrocianosi | Sindrome ipercheratosi palmoplantare diffusa-acrocianosi |
| nl | Diffuse palmoplantaire keratodermie - acrocyanose-syndroom | Diffuse palmoplantaire hyperkeratose - acrocyanose-syndroom |
| pt | Síndrome de queratodermia palmoplantar difusa-acrocianose | |
| pl | Zespół rozlany rogowiec dłoniowo-podeszwowy - akrocyjanoza | Zespół rozlana hiperkeratoza dłoniowo-podeszwowa - akrocyjanoza |
| cs | Syndrom zahrnující difuzní palmoplantární keratoderma a akrocyanózu | Syndrom zahrnující difuzní palmoplantární hyperkeratózu a akrocyanózu |
| uk | Синдром дифузної долонно-підошовної кератодермії-акроціанозу | Синдром дифузного долонно-підошовного гіперкератозу-акроціанозу |
| zh | 弥漫性掌跖角化病-肢端发绀综合征 | 弥漫性掌跖角化过度-肢端发绀综合征 |
| tr | Diffüz palmoplantar keratoderma-akrosiyanoz sendromu | Yaygın palmoplantar hiperkeratoz-akrosiyanoz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.30 | NTBT | attributed | validated |
| MONDO | 0019489 | E | validated | |
| UMLS | C4303588 | 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:98352Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; 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 | 2564235[PMID]_8578969[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2564235[PMID]_8578969[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
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001063 | Acrocyanosis | |
| HP:0007447 | Diffuse palmoplantar kyperkeratosis | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/86918
- This record as JSON: /data/d/86918.json