A long-term follow-up of Japanese mother and her daughter with Blau syndrome: Effective treatment of anti-TNF inhibitors and useful diagnostic tool of joint ultrasound examination.
Blau syndrome (BS) is an autosomal dominant autoinflammatory disease associated with NOD2 gene mutations. It is characterized by arthritis, skin rash, and uveitis. Here, we report contrasting outcomes of a daughter and her mother with BS. Their long-term follow-up revealed the efficacy of anti-tumor necrosis factor inhibitor (TNF) with respect to BS. Joint findings of BS feature tenosynovitis over articular synovitis on ultrasonography. BS might be one of the differential diagnoses of juvenile idiopathic arthritis and rheumatoid arthritis.
a Department of Pediatrics , Sasebo City General Hospital , Sasebo, Nagasaki , Japan.
Yoshikazu
Y
Otsubo
b Department of Pediatrics , Kobe City General Hospital , Kobe, Hyogo , Japan.
Ikuo
I
Okafuji
c Department of Rheumatology and Metabolism , Sasebo City General Hospital , Sasebo, Nagasaki , Japan.
Toshimasa
T
Shimizu
c Department of Rheumatology and Metabolism , Sasebo City General Hospital , Sasebo, Nagasaki , Japan.
Fumiaki
F
Nonaka
d Department of Allergy and Clinical Immunology , Chiba University Hospital , Chuo-ku, Chiba , Japan.
Kei
K
Ikeda
c Department of Rheumatology and Metabolism , Sasebo City General Hospital , Sasebo, Nagasaki , Japan.
Katsumi
K
Eguchi
D000068879:Adalimumab / Q000627:therapeutic use*; D018501:Antirheumatic Agents / Q000627:therapeutic use*; D001168:Arthritis / Q000000981:diagnostic imaging / Q000188:drug therapy*; D005260:Female; D005500:Follow-Up Studies; D050823:Hand Joints / Q000000981:diagnostic imaging*; D006801:Humans; D000069285:Infliximab / Q000627:therapeutic use*; D008875:Middle Aged; D012507:Sarcoidosis; D013577:Syndrome; D013585:Synovitis / Q000000981:diagnostic imaging / Q000188:drug therapy*; D016896:Treatment Outcome; D014409:Tumor Necrosis Factor-alpha / Q000037:antagonists & inhibitors*; D014463:Ultrasonography / Q000379:methods*; D014605:Uveitis / Q000000981:diagnostic imaging / Q000188:drug therapy*; D055815:Young Adult; D056660:Hereditary Autoinflammatory Diseases
D018501:Antirheumatic Agents; D014409:Tumor Necrosis Factor-alpha; D000069285:Infliximab; D000068879:Adalimumab
Anti-TNF inhibitor; Blau syndrome; NOD2 gene; Tenosynovitis; Ultrasonography