Keratolytic winter erythema
Synonyms: Erythrokeratolysis hiemalis · Oudtshoorn disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Keratolytic winter erythema | Erythrokeratolysis hiemalis · Oudtshoorn disease |
| fr | Erythème kératolytique hivernal | Erythrokeratolysis hiemalis · Maladie d'Oudtshoorn |
| de | Keratolytisches Winter-Erythem | Erythrokeratolysis hiemalis · Oudtshoorn-Krankheit |
| es | Eritema queratolítico invernal | Enfermedad de Oudtshoorn · Eritroqueratolisis hiemalis |
| it | Eritema invernale cheratolitico | Eritrocheratolisi hiemalis · Malattia di Oudtshoorn |
| nl | Keratolytisch wintererytheem | Erythrokeratolysis hiemalis · Ziekte van Oudtshoorn |
| pt | Eritema queratolítico do Inverno | |
| pl | Keratolityczny rumień zimowy | = en |
| cs | Keratolytický zimní erytém | Erytrokeratolysis hiemalis · Oudtshoornská nemoc |
| uk | Кератолітична зимова еритема | Еритрокератоліз гімалайський · Хвороба Удтшорна |
| zh | 角层分离性冬季红斑 | 冬令红斑角质松解 |
| tr | Keratolitik kış eritemi | Oudtshoorn hastalığı · Eritrokeratoliz hiemalis |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 148370 | E | validated | |
| ICD-10 | L30.8 | NTBT | attributed | validated |
| ICD-11 | EC20.30 | NTBT | index | validated |
| MONDO | 0007854 | E | validated | |
| MeSH | C536155 | E | validated | |
| UMLS | C0406756 | E | validated | |
| GARD | 8275 | 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 (2):
- ORPHA:79359Other epidermal disorder
rare skin diseases - ORPHA:79360Other genetic epidermal disease
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTSB | Role in the phenotype of | Assessed | HGNC:2527 | ENSG00000164733 | 116810 | 8p23.1 | cathepsin B | 28457472[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010783 | Erythema | |
| Occasional (29-5%) | ||
| HP:0000975 | Hyperhidrosis | |
| HP:0200039 | Pustule | |
Run the differential on the 1 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/50943
- This record as JSON: /data/d/50943.json