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Experience with pediatric sarcoidosis at a centre in Mumbai, India


Pediatric Sarcoidosis is a rare multisystem granulomatous disorder and series from the Asian subcontinent are few.


We describe our experience to date with an inceptional cohort.


Retrospective chart review of the demographic, clinical, diagnostic and genetic characteristics were studied.


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 follow-up 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 G464W, developed cardiomyopathy and aortoarteritis and has a symptomatic parent with the identical mutation. None of the 8 patients following up are off therapy. 5/8(62.5%) achieved clinical improvement in a median duration of 6.9 months[5.6-9.6 IQR].


In our setting, Pediatric Sarcoidosis had a significant time lag to diagnosis, being often initially diagnosed as tuberculosis owing to similar clinical picture and histology. Morbidity is considerable, with arthritis, fever and rash responding to therapy while eye changes and organ damage are relatively refractory. All children show significant growth retardation at diagnosis and follow up inspite of control of constitutional features. Amongst the 3 Blau Syndrome patients, one had an atypical presentation and an autosomal dominant inheritance.

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Correspondence to RP Khubchandani.

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Open Access This article is published under license to BioMed Central Ltd. This is an Open Access article is distributed under the terms of the Creative Commons Attribution License ( ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Khubchandani, R., Hasija, R., Touitou, I. et al. Experience with pediatric sarcoidosis at a centre in Mumbai, India. Pediatr Rheumatol 9 (Suppl 1), P37 (2011).

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