Blau syndrome 4/5 (1)

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Blau syndrome in a child, Affiliation: Department of Microbiology and Immunology, Pediatric Immunology, KU Leuven - University of Leuven, B-3000 Leuven, Belgium; Division of Pediatric Rheumatology, University Hospitals Leuven. CC BY 4.0

Definition

Blue syndrome rains among periodic fever syndromes / auto-inflammatory diseases and also referred to as juvenile sarcoidosis or "juvenile systemic granulomatosis". The disease begins in children before the age of four. In examinations, rheumatic inflammation in the form of granulomatous inflammation of the skin, eye, and joints. Blau syndrome is hereditary, autosomal dominant. Gene mutations have been demonstrated in NOD2 (synonyms: CARD15 and IBD1). Not everyone with such mutations becomes ill, but they are (asymptomatic) carriers of the hereditary.

NOD2 mutaion is also detected by Crohn's disease which is a chronic intestinal inflammation

Occurrence

  • Less than 1 / 1000.000 corresponding to less than 6 cases in Norway

Symptoms

Triad:

  1. Fever
  2. Papular (knotted) rash which partly varies and can disappear (transistically)
  3. Arthritis (Wrists, ankles, knees, elbows, flexion-contractures in fingers = camptodactyl) during the first 10 life year

Diagnosis

  • Biopsy with histological synovial or uveal (eye) granulomatosis

Literature

Auto-inflammatory diseases (BINDEVEVSSYKDOMMER.no)


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