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Background  Familial chilblain lupus (FCL) is a rare, chronic form of cutaneous lupus erythematosus, which is characterized by painful bluish-red inflammatory cutaneous lesions in acral locations. Mutations in  TREX1 ,  SAMHD1  and  STING  have been described in FCL patients. Less than 10  TREX1  mutation positive FCL families have been described in the literature.    Case presentation  Genetic study was performed in a large, nonconsanguineous Chinese family with 13 members over 4 generations affected by chilblain lupus. Whole exome sequencing was performed for the index patient. Significant variant detection was subsequently validated by resequencing using Sanger sequencing in the index patient and other family members. A novel pathogenic mutation  TREX1  p.Asp18His was iditified in the index patient. The mutation was present in affected individuals and was absent in non-affected individuals in the familiy.    Conclusions  We present a four-generation Chinese family with FCL caused by a novel heterozygous mutation  TREX1  p.Asp18His, which had been reported in a patient with Aicardi–Goutie’res syndrome. This is the first reported Chinese family with FCL based on mutation in  TREX1 .

Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi–Goutie’res syndrome