chilblain lupus type 1
chilblain lupus type 1A cutaneous form (OMIM:610448) of lupus erythematosus that presents with painful bluish-red papular or nodular lesions of the skin in acral locations, precipitated by cold and wet exposure at temperatures < 10ºC.
Defects of TREX1, which encodes a nuclear protein with 3' exonuclease activity, cause chilblain lupus.
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