The Japanese Journal of Dermatology
Online ISSN : 1346-8146
Print ISSN : 0021-499X
ISSN-L : 0021-499X
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Committee Report
Seminar for Medical Education
Original Articles
  • Kinuko Irie, Tomoko Hiraiwa, Toshiyuki Yamamoto
    2024 Volume 134 Issue 6 Pages 1629-1636
    Published: May 20, 2024
    Released on J-STAGE: May 20, 2024

    A 17-year-old female presented to our department with dark purple erythematous spots on her fingers and toes that had appeared in infancy and had been treated as severe chilblains. She had a history of open-angle glaucoma, but had no family history of similar skin symptoms. At presentation in April, dark red spots, crusts, and scars were observed on the dorsal surfaces of the fingers of both hands, as well as on both auricles and knees, accompanied by partial loss of fingernails. Autoantibodies were all negative. The patient's symptoms improved during summer; however, during winter, blisters and ulcers arose on her fingers and toes. Genetic analysis revealed a heterozygous pathogenic mutation in the TREX1 gene. The patient was diagnosed as having Aicardi-Goutières syndrome with glaucoma and severe chilblain-like erythema.

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Case Reports