Experience with pediatric sarcoidosis at a centre in Mumbai, India

Methods Retrospective chart review of the demographic, clinical, diagnostic and genetic characteristics were studied. Results Over seven years, 12 of 1214 new cases seen in the Pediatric Rheumatology Clinic (1%) (M: F = 1:1), were diagnosed as Sarcoidosis. 11/12(91.7%) had an onset ≤4 years of age, 8/12(67%) maintained a cumulative followup of 33.7 years ( range 1-9 years). 7/12(58.3%) had received anti-tuberculous therapy prior to referral. Diagnosis was by clinical presentation ‘plus’: ACE (4/ 12), biopsy (1/12), biopsy and ACE (3/12), biopsy and mutation (1/12), mutation (2/12). 3/9(33.3%) are positive for CARD15 mutation (Blau Syndrome). 2 have sporadic mutations at R334W while 1 with a mutation at