HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
Rare, acquired variant of cutaneous lupus erythematosus with acrally localized, cold-induced, pressure-dolent plaques reminiscent of pernions. The clinical and histological differentiation from true chilblain lupus is not always easy, although in the case of frostbite there is a direct temporal relation to exposure to cold, which is not always detectable in chilblain lupus.
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Occurrence/EpidemiologyThis section has been translated automatically.
Rare (Note: Chilblain lupus is often not diagnosed, so the epidemiological data may need correction); allegedly < 100 cases have been described since the first description.
EtiopathogenesisThis section has been translated automatically.
So far unexplained.
A connection of microvascular stasis due to cold-induced capillary damage and hyperviscosity caused by immunological phenomena is discussed.
Links to anorexia nervosa have been described.
Further discussed are autosomal-dominant inherited mutations in the TREX1 gene, a gene encoding an intracellular DNase (see Nucleases below), which itself plays a significant role in apoptosis. TREX1 is associated with familial chilblain lupus.
ManifestationThis section has been translated automatically.
Occurs almost exclusively in women, especially in the cold season and in cooler latitudes. Before, with and after other cutaneous manifestations of cutaneous or systemic lupus erythematosus.
A pseudo-chilblain is observed in the setting of COVID-19 infection (COVID toes) and is generally associated with a mild course of infection.
LocalizationThis section has been translated automatically.
Clinical featuresThis section has been translated automatically.
In the early stage, extensive, deep-red, in winter or the transitional seasons also blue, pressure-dolent swellings, plaques and nodules reminiscent of chilblain.
Over the course of years, reddish-livid, indistinct, distinctly indurated, hyperkeratotic plaques, either surface smooth or coarse lamellar scaling. Possibly hyperesthesia, central atrophy, also erosions or rhagades (over the dorsal parts of the finger joints) or also areal ulcers. A seasonal course is typical, with clear accentuation of the skin symptoms in the cold season and equally clear (but usually not complete) remission in the summer months.
LaboratoryThis section has been translated automatically.
HistologyThis section has been translated automatically.
Sign of cutaneous lupus erythematosus: Epidermis with localization-typical orthohyperkeratosis and slight or even distinct atrophy of the surface epithelium. Throughout the entire dermis dense perivascular lymphocellular infiltrates. In between numerous ectatic, thin-walled blood vessels. In the junctional zone, discrete vacuolar basal cell degeneration. In the mucin staining dermal mucin deposits detectable.
Direct ImmunofluorescenceThis section has been translated automatically.
In the ideal case lupus-typical granular C3- IgG - and IgM deposits at the dermo-epidermal junction zone (lupus band) and at the papillary capillaries.
DiagnosisThis section has been translated automatically.
- major criteria:
- Acral "chilblain-like" plaques
- Fine tissue: Histological and immunohistological signs of LE
- Secondary criteria
- Note: Diagnosis confirmed by 2 major criteria and 1 minor criterion.
Differential diagnosisThis section has been translated automatically.
Frostbite (see below Pernio): most important differential diagnosis, not always reliably differentiable because clinically very similar, furthermore identical collective and identical localizations.
Notice. There is no evidence of lupus erythematosus in perniones.
Sarcoidosis (Lupus pernio): localized mainly in the face (nose); rather untypical localization for Chilblain's lupus. Histology with epithelioid cellular granulomas is proving.
Thrombosis, more rarely cryoglobulinemia, macroglobulinemia or vasculitis.
Complication(s)This section has been translated automatically.
Cave! Due to the risk of transformation into SLE, patients require regular clinical monitoring.
TherapyThis section has been translated automatically.
Consistent cold protection (see also scleroderma, systemic).
Local treatment with medium strength glucocorticoid ointments 0.25% prednicarbate ointment (e.g. Dermatop), 0.1% mometasone ointment (e.g. Ecural ointment), if necessary under occlusion.
Systemic immunosuppressive therapy should be avoided unless signs of systemic lupus erythematosus occur, in which case appropriate treatment modalities should be applied.
In the exclusively cutaneous form, therapy with chloroquine over several months is considered established (dosage corresponding to systemic lupus erythematosus).
Invasive treatment approaches such as chemical lumbar sympathectomy are being discussed.
Progression/forecastThis section has been translated automatically.
Tendency to chronic course. In association with SLE, chilblain lupus occurs either before, with or after other manifestations of LE.
NaturopathyThis section has been translated automatically.
Case report(s)This section has been translated automatically.
Case 1) A 34-year-old female patient reported livide-red plaques on the fingers of both hands that had existed for about 1 decade, were accentuated in winter and significantly improved (but not healed) in the summer months. Recently also slightly painful lumps on the knees. Continued renal hypertension and excessive cigarette consumption (20 cigarettes per day). Findings: On both hands, here on the back of the fingers 2-4 livid pressure dolent swellings, plaques and nodes. Occasionally also hyperkeratotic nodules with central atrophy. Histology: In the whole dermis dense perivascular lymphocellular infiltrates are visible. In between numerous ectatic thin-walled blood vessels. In the junctional zone discrete vacuum basal cell degeneration. In the mucin staining dermal mucin deposits detectable. Hypergammaglobulinemia. ANA: positive; anti SSA/Ro neg. ds-DNA: neg.; BSG 20/40mm; . Therapy: Local treatment with medium strength glucocorticoid ointments temporarily under occlusion. Chloroquine (dosage see below antimalarials).
A 60-year-old, otherwise healthy patient described that she had noticed swollen, cracked fingers during the cold season for 10 years. For 2-3 years similar changes had occurred in her feet and nose. She noticed a clear worsening of the symptoms in winter. In summer, she said, there was an almost complete remission. She also noticed a clear improvement of the symptoms on a longer holiday trip to South Africa. When returning to cold Germany, however, the problem reappeared within a few weeks. How to treat with a local cortisone preparation always leads to a short-term improvement. An internal treatment has not yet taken place. Findings: Large areas of red and swollen, in cold weather also blue, painful fingers and back of the hand, dorsally increased; over the back of the hand also streaky redness. Coarse scaling with rhagades over the extensor sides of individual finger joints. Nose and cheeks (butterfly-like) reddened and slightly swollen, interspersed with telangiectasia (this is also known as rosacea erythematosa). Histology: Oedema of the upper and middle dermis, conspicuously dilated blood vessels. Superficial and deep, nodular, perivascular purely lymphocytic infiltrates. Focal epitheliotropy (also in the adnexal region). Localized features of interface dermatitis. Epidermis orthokeratotic cornification. Laboratory: BSG 20/50mm; positive rheumatoid factor, ANA:1-320 positive; anti-Ro+; no DNA ac. Gamma globulins slightly increased. Therapy: The patient initially received nifedipine p.o. without significant success. Subsequently, transition to chloroquine (dosage see antimalarials below). Local therapy: Strict protection against cold, if necessary local corticosteroids.
LiteratureThis section has been translated automatically.
- Franceschini F, et al. (1999) Chilblain lupus erythematosus is associated with antibodies to SSA/Ro. Lupus 8: 215-219
- Günther C (2015) Genetics of lupus erythematosus. Dermatologist 66:121-130
- Halermann C et al (2011) Painful livid plaques on the acras in cold. JDDG 9: 331-332
- Helm TN, Jones CM (2002) Chilblain lupus erythematosus lesions precipitated by the cold. Cutis 69: 183-184
- Hutchinson J (1888) Harveian lectures on lupus. The varieties of common lupus. Br Med J 58: 113-118
- Lee-Kirsch MA et al (2007) Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet 39: 1065-1067
- Lee-Kirsch MA et al (2006) Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. Am J Hum Genet 79: 731-737
- Millard LG et al (1987) Chilblain lupus erythematosus. Br J Dermatol 98: 497-506
- Pistorius MA et al (2020) Chilblains and COVID19 infection: Causality or coincidence? How to proceed? J Med Vasc 45:221-223.
- Uter W et al (1988) Chilblain lupus erythematosus. Dermatologist 39: 602-605
- Su WP et al (1994) Chilblain lupus erythematosus (lupus pernio): clinical review of the Mayo Clinic erxperience and proposal of diagnostic criteria. Cutis 54: 395-399
Incoming links (11)Apoptosis; Covid-19; COVID-19 and skin; Frostbite lupus; Lupus erythematodes chronicus discoides; Nail, more painful; Perniones; Perniones; PID autoinflammatory diseases ; Primary immunodeficiencies and skin; ... Show all
Outgoing links (15)Antimalarials; Antinuclear antibodies; Apoptosis; COVID-19 and skin; Cutaneous lupus erythematosus (overview); Familial Chilblain Lupus ; Glucorticosteroids topical; Interface dermatitis; Lupus erythematosus (overview); Lupus erythematosus systemic; ... Show all
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