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T. M. Martin, D. Stichweh, M. Punaro, T. M. Doyle, J. A. Lewis, C. D. Rose, C. H. Wouters; Infantile Onset Panniculitis With Uveitis and Systemic Granulomatosis: A Previously Unrecognized Condition Distinct From Blau Syndrome. Invest. Ophthalmol. Vis. Sci. 2007;48(13):4402.
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Familial juvenile systemic granulomatosis, or Blau syndrome (BS) and early onset sarcoidosis represent the inherited and sporadic forms, respectively, of pediatric granulomatous arthritis (PGA) characterized by granulomatous uveitis, dermatitis, synovitis, and CARD15/NOD2 mutations. An Internatioanl PGA Registry was established to define further clinical phenotype/genotype correlates.
Human subjects committees of each coordinating center approved the registry. DNA genotyping of CARD15 was via denaturing HPLC and direct sequencing.
Three out of 22 cases (or families) in the registry were identified as distinct from BS and as similar to each other by the presence of early onset widespread lobular panniculitis. All 3 had painful panniculitis, fever, hepatosplenomegaly, anemia, uveitis and arthritis. Epitheloid cell granulomata were detected by histology in several tissues. Case #1 presented at age 10 weeks with tender subcutaneous nodules accompanied by spiking fevers and malaise. Despite steroid therapy, panniculitis and systemic illness continued, and synovitis developed in knees/ankles by age 6. Bilateral panuveitis with granulomatous lesions appeared at age 7, followed by a chronic, relapsing course complicated by band keratopathy, cataract, glaucoma, vitreous hemorrhages and retinal detachment. Case #2, a 2 year old with a 12-month history of erythematous tender subcutaneous nodules (face/arms/legs) and high fevers, presented with tenosynovitis of both wrists and panuveitis with posterior synechiae. The uveitis remained active with systemic steroid therapy and was complicated by cataract and glaucoma. Case #3 experienced persistent fever, panniculitis, hepatosplenomegaly and anemia during the first 4 months of life. From age 8 months, inflximab controlled the systemic illness, until relapse at age 4 with return of panniculitis, onset of mild oligoarticular arthritis (ankles/knee) and bilateral chronic anteror uveitis with posterior synechiae and mild optic nerve edema. Pancreatic disease, infection, α1-trypsin deficiency, complement deficiency and hemophagocytosis were ruled out. There was no mutation in CARD15 exons.
We describe a novel syndrome consisting of febrile lobular panniculitis, uveitis, and arthritis. The disease was severe, with widespread granulomatous inflammation and significant visual impairment.
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