Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1.

@article{Gnther2009FamilialCL,
  title={Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1.},
  author={C G{\"u}nther and Michael Meurer and Anette Stein and Antje Viehweg and Min Ae Lee-Kirsch},
  journal={Dermatology},
  year={2009},
  volume={219 2},
  pages={162-6}
}
Chilblain lupus erythematosus is a rare form of cutaneous lupus erythematosus characterized by bluish red infiltrates in acral locations of the body mostly affecting middle-aged women. We recently described a familial form of chilblain lupus manifesting in early childhood caused by a heterozygous mutation in the TREX1 gene, which encodes a 3'-5' DNA exonuclease. Thus, familial chilblain lupus represents the first monogenic form of cutaneous lupus erythematosus. Here we describe the unusual… CONTINUE READING