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Author(s): Matthew James Verheyden, Medical Student, University of Notre Dame Australia, Sydney, NSW, Australia; Claudia Hadlow, Medical Student, University of Notre Dame Australia, Sydney, NSW, Australia. DermNet NZ Editor in Chief: Adjunct A/Prof Amanda Oakley, Dermatologist, Hamilton, New Zealand. Copy edited by Gus Mitchell. August 2019.
Chilblain lupus erythematosus (LE) is a rare variant of chronic cutaneous LE and was originally described by Jonathan Hutchinson in 1888 .
The term ‘chilblain’ is derived from Anglo-Saxon terms ‘chill’ referring to ‘cold’ and ‘blegen’, which is a synonym for ‘sore’.
Chilblain LE is an under-recognised entity. In a 2008 review, the authors stated that 70 cases have been reported in the literature, with limited numbers of adolescents .
Chilblain LE occurs as a sporadic and inherited condition. Sporadic cases are the most common and occur predominantly in middle-aged females . Familial chilblain LE presents in early childhood .
Associations with anorexia nervosa, intestinal lymphoma, and pregnancy have been described in the literature.
The pathogenesis of the sporadic form of chilblain LE remains unknown .
It is believed that cold stimulus provokes vasoconstriction or microvascular injury with occlusion of the capillary bed and diminished circulation, leading to hyperviscosity and stasis of the skin, which is exacerbated by reduced blood temperature [2,3].
These pathophysiological changes in the flow and microvasculature may also be aggravated by immunological anomalies (eg, rheumatoid factor or autoantibodies).
In those with a family history, or onset of chilblain LE in childhood, the condition may be a result of a mutation in the TREX1 or SAMHD1 genes .
These mutations in TREX1 and SAMHD1 are inherited via an autosomal dominant mode of inheritance [4,6]. Heterozygous mutation (a mutation of one allele) in these genes lead to accumulation of nucleic acids (eg, dsDNA, RNA:DNA duplexes).
TREX1 mutations have also been described in other conditions related to microvascular endothelial dysfunction, such as dominant retinal vasculopathy and cerebral leukodystrophy.
Chilblain LE begins as red or dusky purple patches, papules, and plaques that are initiated or exacerbated by exposure to cold and moisture in a cool climate. The lesions are often pruritic and painful.
The common sites involved are the fingers, toes, heels, and soles. Less frequently, the lesions may also be present on the nose, ears, palms, knuckles, elbows, knees, and lower legs.
Other features may include:
People living in regions with warmer and drier climates may not develop typical chilblains.
In some circumstances, chilblains may represent lupus pernio with pre-existing LE rather than chilblain LE . In these cases, although the two entities are clinically similar and both associated with systemic disease (sarcoidosis and systemic lupus erythematosus, respectively), the prognosis and treatment regimens are distinct .
Complications of chilblain LE include:
Follow-up is advised for those with features of SLE (eg, malar rash).
The Mayo Clinic Diagnostic Criteria for the diagnosis of chilblain LE comprises of two major, and four minor criteria . In order to diagnose chilblain LE, both major criteria and at least one minor criterion need to be demonstrated.
Chilblain LE is often be associated with several immunological makers including:
Raynaud phenomenon may also coexist .
Lesions persisting beyond the colder months, positive antinuclear antibody, and concomitant features of the American College of Rheumatology (ACR) criteria for SLE distinguish chilblain LE from idiopathic chilblains .
Other skin conditions that can be confused with chilblain lupus include perniosis (ordinary chilblains), acrocyanosis, Raynaud phenomenon, lupus pernio, livedo reticularis, dermatomyositis, cold panniculitis, and cold urticaria.
Perniosis (or usual chilblains) is characterised by:
Acrocyanosis is characterised by:
Raynaud phenomenon is characterised by:
Livedo reticularis is characterised by:
Dermatomyositis can cause nail fold erythema, telangiectasia and nailfold inflammation similar to chilblain lupus erythematosus. Other clinical features of dermatomyositis include:
Cold panniculitis is characterised by:
Protection from the cold by various physical measures should be emphasised.
Examples of these measures include:
Smoking cessation should also be encouraged, due to vasoconstrictive effects of nicotine.
Medication may be necessary for patients with recalcitrant lesions and for secondary bacterial skin infections. A therapeutic approach has been proposed based on the level of evidence of the therapies in chilblain LE .
These include the following:
Patients have successfully been treated in certain circumstances by excision and repair using a full-thickness graft derived from an unaffected area.
The majority of patients respond well to symptomatic treatment.
In those with the sporadic form, 18% of individuals will eventually develop SLE; there is no evidence of progression to SLE in familial chilblain LE.
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