Chilblain lupus
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy
- Status
- active
A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chilblain lupus | |
| fr | Lupus érythémateux type Chilblain | |
| de | Chilblain-Lupus | |
| es | Lupus perniótico | Lupus sabañón |
| it | Lupus gelone | |
| nl | Chilblain lupus | |
| pt | Lúpus pérnio | |
| pl | Toczeń odmrozinowy | |
| cs | Chilblain lupus | |
| uk | Холодовий вовчак | |
| zh | 冻疮样狼疮 | |
| tr | Chilblain Lupus |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L93.2 | NTBT | attributed | validated |
| ICD-11 | EB51.Y | NTBT | index | validated |
| MONDO | 0019557 | E | validated | |
| MeSH | C535924 | E | validated | |
| UMLS | C4551515 | 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 (3):
- ORPHA:163531Chronic cutaneous lupus erythematosus
rare skin diseases - ORPHA:183478Genetic skin vascular disorder
rare genetic diseases - ORPHA:79379Skin vascular disease
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 | 70 cases | Worldwide | Case(s) | Validated | 18543054[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18543054[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
18 annotations · validated 2019-04-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000962 | Hyperkeratosis | |
| Frequent (79-30%) | ||
| HP:0000965 | Cutis marmorata | |
| HP:0030350 | Erythematous papule | |
| HP:0025131 | Finger swelling | |
| HP:0010702 | Increased circulating immunoglobulin concentration | |
| HP:0011123 | Inflammatory abnormality of the skin | |
| HP:0025300 | Malar rash | |
| HP:0030899 | Pruritis on hand | |
| HP:0030880 | Raynaud phenomenon | |
| HP:0002923 | Rheumatoid factor positive | |
| HP:0000988 | Skin rash | |
| HP:0200042 | Skin ulcer | |
| Occasional (29-5%) | ||
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0003613 | Antiphospholipid antibody positivity | |
| HP:0002099 | Asthma | |
| HP:0012325 | Chronic myelomonocytic leukemia | |
| HP:0007417 | Discoid lupus rash | |
| HP:0002725 | Systemic lupus erythematosus | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 24285807[PMID]_18543054[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90280
- This record as JSON: /data/d/90280.json