Blau Syndrome and Early-Onset Sarcoidosis: A Six Case Series and Review of the Literature.

Objectives: This study aims to discuss the clinical, laboratory and genetic findings, and treatment options for six patients who were diagnosed with Blau syndrome (BS)/early-onset sarcoidosis (EOS). Patients and methods: The study included four patients (2 males,2 females; mean age 7 years; range 4 to 10 years) with EOS and two siblings (1 male, 1 female; mean age 10 years; range, 9 to 11 years) with BS. Age, age of initial symptoms, age of diagnosis; articular involvement, presence of uveitis, dermatitis, or fever, other organ involvement, laboratory findings, results of metabolic tests for mucopolysaccharidosis and mucolipidosis, results of genetic, pathologic, and immunologic tests, radiologic findings to evaluate skeletal dysplasia, and treatment options were collected. Results: The median age at diagnosis of all patients was 6 years (range, 1 to 10 years). Five patients had camptodactyly and bilateral boggy synovitis in the wrists and ankles, one had granulomatous inflammatory changes in the liver and kidney biopsy, and one had attacks of fever and granulomatous dermatitis. None had uveitis. The detected mutations in nucleotide-binding oligomerization domain containing 2 (NOD2) were P268S (rs2066842), M513T (rs104895473), R702W (rs2066844), V955I (rs5743291), H343Y (rs199858111), and M491L (16:50745293). The treatments of patients included corticosteroids, non-steroid anti-inflammatory drugs, methotrexate, infliximab, adalimumab, anakinra, and canacinumab. Conclusion: Camptodactyly and boggy synovitis are important signs of BS/EOS. Methotrexate and tumor necrosis factor blockers are more effective in patients with predominantly articular symptoms. In patients 5 and 6 and their mother, we determined a novel M491L mutation in the NOD2 gene. Currently, this work is in progress towards identifying the pathogenesis and treatment options for this disease

Elemental mercury intoxication in 7 patients admitted to a pediatric rheumatology clinic

Paç Kısaarslan A, Sözeri B, Baştuğ F, Gündüz Z, Yel S, Nalçacıoğlu H, Şahin N, Özdemir Çiçek S, Poyrazoğlu H, Düşünsel R. Elemental mercury intoxication in 7 patients admitted to a pediatric rheumatology clinic. Turk J Pediatr 2019; 61: 786-790. Mercury (Hg) is a toxic heavy metal that can be classified into three groups; organic (methyl), inorganic (mercuric), and elemental (metallic) mercury(Hg0). Mercury intoxication occurs mostly with the elemental form which can potentially damage the function of any organ, or any subcellular structure. The target organ of mercury is the brain, but peripheral nerve function, renal function, immune function, endocrine and muscle function, and several types of dermatitis have been described. We present 7 patients admitted to a pediatric rheumatology clinic with severe extremity pain. One of the patients had acrodynia, two of them had hypertension, two of them had tubulopathy, and three of them had neuropathy. The treatments were Dimercaptosuccinic acid and metalcaptase. In this report, we emphasize that mercury intoxication should be kept in mind with unexplained extremity pain. Timely diagnosis and treatment may prevent severe morbidity and mortality