Keratolytic winter erythema
General Information (adopted from Orphanet):
| Synonyms, Signs: |
OUDTSHOORN SKIN KWE Oudtshoorn disease Erythrokeratolysis hiemalis |
| Number of Symptoms | 4 |
| OrphanetNr: | 50943 |
| OMIM Id: |
148370
|
| ICD-10: |
|
| UMLs: |
C0406756 |
| MeSH: |
C536155 |
| MedDRA: |
|
| Snomed: |
239064000 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Other epidermis disorder
-Rare skin disease Other genetic epidermal disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000962) | Hyperkeratosis | Very frequent [Orphanet] | 216 / 7739 | |||
|
|
(HPO:0010783) | Erythema | Very frequent [Orphanet] | 138 / 7739 | |||
|
|
(OMIM) | Intermittent recurrent centrifugal peeling with redness, esp. palms and soles | 1 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|