Chilblain lupus L93.2

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

chilblain lupus; Chilblain lupus erythematosus; Chilblain Lupus erythematosus; Chilblain Lupus erythemtaodes; Frostbite Lupus

History
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Hutchinson, 1888

Definition
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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.

Occurrence/Epidemiology
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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.

Etiopathogenesis
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  • Unexplained so far.
  • A connection between microvascular stasis caused by cold-related capillary damage and hyperviscosity caused by immunological phenomena is being discussed.
  • Links to anorexia nervosa have been described.
  • Autosomal-dominantly inherited mutations in the TREX1 gene, a gene encoding an intracellular DNase (see nucleases below), which plays an important role in apoptosis, are also discussed.

Manifestation
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Occurs almost exclusively in women, especially during the cold season and in cooler latitudes. Before, with and after other cutaneous manifestations of cutaneous or systemic lupus erythematosus.

Localization
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Mainly dorsal and marginal hand and foot areas, nose, ears.

Clinical features
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  • In the early stages, the swellings, plaques and nodules are flat, deep red, in winter or in the transitional seasons also blue, reminiscent of frostbite (chilblain = frostbite), and are covered with pressure.
  • In the course of years reddish-livid, blurred, clearly indurated, hyperkeratotic plaques, either surface-smooth or coarse lamellar scaly. Possibly hyperaesthesia, central atrophy, also erosions or rhagades (over the dorsal parts of the finger joints) or also flat ulcers. Typical is a seasonal course with clear accentuation of the skin symptoms in the cold season and equally clear (but mostly not complete) remission in the summer months.
  • In 2006, a familial form of chiblain lupus was described for the first time, which is based on a mutaion of the TREX1 gene.

Laboratory
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Hypergammaglobulinemia. ANA: often positive; antiphospholipid Ac, anti SSA/Ro variable pos. ds-DNA: neg.; accelerated BSG. Variable: lowering ofC3 andC4.

Histology
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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 Immunofluorescence
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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.

Diagnosis
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  • Main criteria:
    • Acral "frostbitten" plaques
    • Tissue: Histological and immunohistological signs of LE
  • Secondary criteria
  • Remark: Diagnosis confirmed with 2 main criteria and 1 secondary criterion

Differential diagnosis
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  • Frostbite (see Pernio below): most important differential diagnosis, not always reliably differentiable as clinically very similar, furthermore identical collective and identical localizations.

    Notice! There is no evidence of lupus erythematosus in perniones.

  • Sarcoidosis (lupus pernio): mainly localized in the face (nose); rather atypical localization for chilblain lupus. Histology with epitheloid cell granulomas is conclusive.
  • Thrombosis, more rarely cryoglobulinemia, macroglobulinemia or vasculitis.

Complication(s)
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Cave! Due to the risk of transformation into SLE, patients require regular clinical monitoring.

Therapy
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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/forecast
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Tendency to chronic course. In association with SLE, chilblain lupus occurs either before, with or after other manifestations of LE.

Naturopathy
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Vascular training (alternating baths).

Case report(s)
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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).

Case 2)

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.

Literature
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  1. Franceschini F, et al (1999) Chilblain lupus erythematosus is associated with antibodies to SSA/Ro. lupus 8: 215-219
  2. Günther C (2015) Genetics of lupus erythematosus. Dermatologist 66:121-130
  3. Halermann C et al (2011) Painful livid plaques on the acra in cold weather. JDDG 9: 331-332
  4. Helmet TN, Jones CM (2002) Chilblain lupus erythematosus lesions precipitated by the cold. Cutis 69: 183-184
  5. Hutchinson J (1888) Harveian lectures on lupus. The varieties of common lupus. Br Med J 58: 113-118
  6. 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
  7. Lee-Cherry MA et al (2006) Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. At J Hum Genet 79: 731-737
  8. Millard LG et al (1987) Chilblain lupus erythematosus. Br J Dermatol 98: 497-506
  9. Uter W et al (1988) Chilblain-Lupus erythematosus. Dermatologist 39: 602-605
  10. 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

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Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020