ORPHA:69744
Circumscribed palmoplantar hypokeratosis
Synonyms: Circumscribed acral hypokeratosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adult
- Status
- active
A rare acquired epidermal dysplasia characterized by annular, well-circumscribed patches of erythematous depressed skin.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Circumscribed palmoplantar hypokeratosis | Circumscribed acral hypokeratosis |
| fr | Hypokératose palmoplantaire circonscrite | Hypokératose acrale circonscrite |
| de | Hypokeratose, palmoplantare zirkumskripte | Umschriebene akrale Hypokeratose |
| es | Hipoqueratosis palmoplantar circunscrita | Hipoqueratosis acral circunscrita |
| it | Ipocheratosi palmoplantare circoscritta | Ipocheratosi acrale circoscritta |
| nl | Circumscripte palmoplantaire hypokeratose | Begrensde palmoplantaire hypokeratose · Circumscripte acrale hypokeratose |
| pt | Hipoqueratose palmo-plantar circunscrita | Hipoqueratose acral circunscrita |
| pl | Ograniczona hipokeratoza dłoniowo-podeszwowa | = en |
| cs | Cirkumskripční palmoplantární kypokeratóza | = en |
| uk | Окреслений долонно-підошовний гіпокератоз | Циркулярний акральний гіпокератоз |
| zh | 局限性掌趾角化不全 | |
| tr | Çevreleyen palmoplantar hipokeratoz |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L98.8 | NTBT | attributed | validated |
| ICD-11 | EK90.Y | NTBT | attributed | validated |
| MONDO | 0019076 | E | validated | |
| UMLS | C0406762 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79359Other epidermal disorder
rare skin diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 16700830[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
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HPO phenotypes
5 annotations · validated 2017-05-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011121 | Abnormal skin morphology | |
| HP:0010486 | Abnormality of the hypothenar eminence | |
| HP:0100872 | Abnormality of the plantar skin of foot | |
| HP:0001227 | Abnormality of the thenar eminence | |
| HP:0200035 | Skin plaque | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 24068139[PMID]_28502096[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/69744
- This record as JSON: /data/d/69744.json