Familial Chilblain lupus type 2 is an autosomal dominant disorder which is due to mutations of the SAMHD1 gene. Onset is in early childhood with symptoms redness, itching, inflammation, and sometimes blisters of toes and fingers. The symptoms use to exacerbate in cold and humid climate and show a remission in the sommer.
The prevalence of all types of familial chilblain lupus is less than 1:1,000,000.
Laboratory findings include signs of inflammation and antinuclear autoantibodies.
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Ravenscroft JC et al. (2011) Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. |
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Wikipedia article Wikipedia EN (Chilblains) |