PAPA patients with active lesions display increased NLRP3-mediated IL-1β secretion, and long-term efficacy of IL-1 blockade was demonstrated. Even if other mechanisms related to the complex proline-serine-threonine phosphatase-interacting protein 1 protein networking might play additional roles, this study further supports the potential of IL-1 blockade as an effective therapeutic strategy in PAPA syndrome.

BackgroundData from routine clinical practice are needed to further define the efficacy and safety of biologic medications in children with juvenile idiopathic arthritis (JIA). The aim of this analysis was to investigate the disease status, reasons for discontinuation and adverse events in Italian JIA patients treated with etanercept (ETN).MethodsIn 2013, all centers of the Italian Pediatric Rheumatology Study Group were asked to make a census of patients given ETN after January 2000. Patients were classified in three groups: group 1 = patients still taking ETN; group 2 = patients discontinued from ETN for any reasons; group 3 = patients lost to follow-up while receiving ETN. All three groups received a retrospective assessment; patients in group 1 also underwent a cross-sectional assessment.Results1038 patients were enrolled by 23 centers: 422 (40.7%) were in group 1, 462 (44.5%) in group 2, and 154 (14.8%) in group 3. Median duration of ETN therapy was 2.5 years. At cross-sectional assessment, 41.8% to 48.6% of patients in group 1 met formal criteria for inactive disease, whereas 52.4% of patients in group 2 and 55.8% of patients in group 3 were judged in clinical remission by their caring physician at last visit. A relatively greater proportion of patients with systemic arthritis were discontinued or lost to follow-up. Parent evaluations at cross-sectional visit in group 1 showed that 52.4% of patients had normal physical function, very few had impairment in quality of life, 51.2% had no pain, 76% had no morning stiffness, and 82.7% of parents were satisfied with their child’s illness outcome. Clinically significant adverse events were reported for 27.8% of patients and ETN was discontinued for side effects in 9.5%. The most common adverse events were new onset or recurrent uveitis (10.2%), infections (6.6%), injection site reactions (4.4%), and neuropsychiatric (3.1%), gastrointestinal (2.4%), and hematological disorders (2.1%). Ten patients developed an inflammatory bowel disease and 2 had a malignancy. One patient died of a fulminant streptococcal sepsis.ConclusionsAround half of the patients achieved complete disease quiescence under treatment with ETN. The medication was overall well tolerated, as only one quarter of patients experienced clinically significant adverse events and less than 10% had treatment discontinued for toxicity.

Cytophagic histiocytic panniculitis is a rare disease, associated with either nonmalignant conditions or subcutaneous panniculitis-like T-cell lymphoma, and often also associated with hemophagocytic lymphohistiocytosis (HLH). We report the case of a 11-year-old boy with a history of secondary HLH who, after a local trauma, developed a painful, indurated plaque over the right thigh associated with relapsing HLH. Histopathologic findings from skin biopsy specimens revealed significant lobular panniculitis with benign histiocytes showing hemophagocytosis. High-dose intravenous methylprednisolone and cyclosporine A treatment was highly effective. A genetic study after a new, relapsing episode of HLH revealed an heterozygous missense mutation on STX 11 gene inherited from the mother.

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BackgroundPigmented Villonodular synovitis (PVNS) is a rare disease in children. The treatment of choice is the synovectomy, which nevertheless often results in joint function impairement, especially in pediatric subjects in which more frequently it may affect growth plates with residual damage. To date, the first-line treatment of PVNS is the partial or total synovectomy, that may be performed during arthroscopic procedure or with arthrotomy, respectively, with high incidence of recurrence in case of arthroscopy. The association of local post-operative radiation therapy has been reported to be effective in preventing recurrence, thus avoiding the need for subsequent surgical procedures. However, the use of radiation therapy in children is currently controversial due to limited case reportsMethodsSG, an 11-year-old, male, came under our observation for swelling, pain and functional impairment of the left knee. Medical history unveiled that six months before the boy had experienced a similar episode, with evidence of intra-articular effusion and thickening of the synovium at the ultrasound assessment. The clinical picture had gradually subsided till resolution in about a month, apparently benefitting from rest and local application of ice. After three months of well-being, swelling with minimal functional limitation and pain after exertion recurred and the boy was, thus, sent for rheumatological consult. At the physical examination, the left knee was found to be swollen with minimal functional limitation. The routine blood testing and immuno-assays were not significant. In particular ANA were negative. The ultrasound showed intraarticular corpusculated effusion. Arthrocentesis was performed and resulted in 50 ml of frankly bloody synovial fluid. MRI (T1 sequences S, MultiEco, GE T2 and STIR) was suggestive of diffuse PVNS. The exploratory arthroscopy with synovial biopsy confirmed the radiological diagnosis. Immunohistochemistry showed the presence of an inflammatory infiltrate with a CD3+CD8+ prevailing component, associated with a CD68+ monocytic subset and only a minimal CD19 + plasma cell infiltrate.By adopting a more conservative approach, the patient underwent 2 intra-articular infiltration of triamcinolone hexacetonide (40 mg/dose) at a distance of 3 months, and a significant clinical improvement of the swelling and functional limitation was obtained.MRI control performed after 7 months showed significant reduction of intra-articular effusion and stationary panelSynovial hyperplasia.ConclusionsThe case herein described showed the efficacy, although partial, of intra-articular infiltration as bridging treatment in children with PVNS. This conservative therapeutical approach may be a valuable alternative that can allow to delay the synovectomy until the closure of the growth plates had been occurred, thus limiting the risk of secondary outcomes related to residual damage due to surgical procedure in children.Disclosure of InterestNone declared