Fig. 1

Clinical features and genetic analysis of Case 1. a Chilblain lupus erythematosus lesions over the ventral aspect of 4^th toe and dorsal aspect of the index finger and thumb. b The spectrum of brain changes, including encephalopathy with leukodystrophy on brain computed tomography. c Sanger sequencing of identified alterations with whole exome sequencing of a patient and her parents. d The family pedigree of case 1 with the TREX1 mutation