Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Familial Chilblain lupus type is an autosomal dominant disorder which is due to mutations of the TREX1 (type 1) and SAMHD1 (type 2) gene. Onset is in early childhood with symptoms redness, itching, inflammation, and sometimes blisters on toes and fingers. The symptoms use to exacerbate in cold and humid climate and show a remission during sommer.
The prevalence of the whole group is less than 1:1,000,000.
Laboratory findings include signs of inflammation and antinuclear autoantibodies.
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Wikipedia article Wikipedia EN (Chilblains)
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