chilblain lupus
Findings
No curated finding names chilblain lupus yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0019557), read 2026-09-29. CC BY 4.0.
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HyperkeratosisHPOHP:0000962
- Very frequent (80% to 99% of cases)
- Cutis marmorataHPOHP:0000965
- Frequent (30% to 79% of cases)
- Erythematous papuleHPOHP:0030350
- Frequent (30% to 79% of cases)
- Finger swellingHPOHP:0025131
- Frequent (30% to 79% of cases)
- Increased circulating immunoglobulin concentrationHPOHP:0010702
- Frequent (30% to 79% of cases)
- Inflammatory abnormality of the skinHPOHP:0011123
- Frequent (30% to 79% of cases)
- Malar rash
Show the remaining 6
- Antinuclear antibody positivityHPOHP:0003493
- Occasional (5% to 29% of cases)
- Antiphospholipid antibody positivityHPOHP:0003613
- Occasional (5% to 29% of cases)
- AsthmaHPOHP:0002099
- Occasional (5% to 29% of cases)
- Chronic myelomonocytic leukemiaHPOHP:0012325
- Occasional (5% to 29% of cases)
- Discoid lupus rashHPOHP:0007417
- Occasional (5% to 29% of cases)
- Systemic lupus erythematosusHPOHP:0002725
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SAMHD1HGNC:15925
- Disputed Evidence · Illumina · Autosomal dominant · 2019
Where it sits
Other names
2 names
Resolves to: chilblain lupus
- Also called
- CHLEHutchinson lupus