chilblain lupus type 2

chilblain lupus type 2

A rare cutaneous form (OMIM:614415) of lupus erythematosus, which presents with painful bluish-red papular or nodular lesions of acral skin, precipitated by cold and wet exposure at temperatures < 10º.

Molecular pathology
Defects in SAMHD1, which encodes a putative nuclease involved in the innate immune response, cause chilblain lupus type 2.