Takayasu arteritis is characterised by disturbances of B cell homeostasis and responds to B cell depletion therapy with rituximab.

Unlabelled: Introduction Takayasu arteritis (TA) is a large vessel vasculitis involving the aorta and its major branches. T cell-mediated autoimmunity is thought to play a major role in its pathogenesis, while the role of B cells is still unclear.

Methods: B cell subsets in the peripheral blood of 17 patients with TA were analysed and compared with nine patients with active systemic lupus erythematosus (SLE) and nine healthy controls by flow cytometry.

Prevention of secondary ischemic events by superficial temporal artery-middle cerebral artery bypass surgery after tuberculosis-induced vasculopathy in a 5-year-old child.

Tuberculosis-related vasculopathy and resulting ischemic events are a common finding after tuberculous meningitis (TBM) in children. The authors report on a case of recurring ischemic episodes that were refractory to repetitive endovascular procedures (transluminal angioplasty, stent insertion, in-stent vessel dilation). After failure of endovascular treatment, extracranial-intracranial (EC-IC) bypass surgery was performed to prevent further ischemia.

[Updated statement by the German Society for Pediatric and Adolescent Rheumatology (GKJR) on the FDA's report regarding malignancies in anti-TNF-treated patients from Aug. 4, 2009].

TNF inhibitors and other biologicals have greatly expanded the therapeutic options for juvenile idiopathic arthritis (JIA). While the efficacy of etanercept and adalimumab has been proven in randomized controlled clinical trials, their long-term safety remains the subject of ongoing investigations. Reports of leukaemia and tumours in children and adolescents treated with etanercept, infliximab and adalimumab have raised questions about an increased risk for malignancies, with lymphoma accounting for the largest group at 50% of all 48 malignancies reported by the FDA.

Neutrophil-derived S100A12 as novel biomarker of inflammation in familial Mediterranean fever.

Objective: Familial Mediterranean fever (FMF) is characterised by recurrent periodic febrile attacks and persistent subclinical inflammation. The damage-associated molecular pattern (DAMP) protein S100A12 has proven to be a sensitive marker for disease activity and inflammation in numerous inflammatory disorders. The aim of this study was to analyse the role of S100A12 in the detection of inflammation in patients with FMF.

Exercise-induced hyperthermia in childhood: a case report and pilot study.

Unlabelled: Hyperthermia is characterized by an increase of body core temperature due to exogenous heat exposure and/or endogenous heat production. Contrary to fever the hypothalamic-controlled temperature set point remains unchanged.

Aim: To demonstrate that exercise-induced hyperthermia is a common phenomenon in childhood.

Oculocutaneous albinism accompanied by minor morphologic stigmata and reduced number and function of NK cells. A new variant of NK cell defect?

We describe the case of a 7-year-old girl with an apparently new genetic disorder characterized by oculocutaneous albinism, microcephaly, low-set helices, a prominent nose with a broad bridge, a long philtrum, a thin upper lip, a short neck, brachydactyly of the hands and syndactyly between the second and third toes of both feet, thrombocytopenia, and granulocytopenia. In addition, she had extremely low amounts of natural killer cells that were phenotypically normal but lacking cytotoxic activities. Clinically this defect was associated with recurrent and severe respirator-dependent pneumonia of viral and bacterial origin.

Successful infliximab treatment of posterior scleritis in a 13-year-old child refractory to other immunosuppressive therapy.

Background: Posterior scleritis is a potentially blinding inflammatory disorder rarely seen in children. Standard care consists of systemic administration of steroids and immunosuppressants such as methotrexate or ciclosporin A. We describe the case of a young girl suffering from therapy refractory posterior scleritis successfully treated with the tumor necrosis factor (TNF) inhibitor infliximab.

Colchicine use in children and adolescents with familial Mediterranean fever: literature review and consensus statement.

The daily application of colchicine is the standard therapy for prophylaxis of attacks and amyloid deposition in familial Mediterranean fever. However, because of many issues (eg, dosage, time of introduction, etc), no standardized treatment recommendations have been established. In this work we review the available literature on colchicine use with respect to its indication, efficacy, mode of application, and safety in children and adolescents with familial Mediterranean fever.

Uncommon synovial cysts in children.

Unlabelled: Popliteal synovial cysts (Baker's cysts) are a common occurrence in children and adults. Synovial cysts in other locations and/or with atypical extension are less common and may be confounded with tumors or other medical conditions. In this article we describe the underlying disease, clinical presentation and clinical course in six children with a sudden onset of paraarticular soft tissue masses or non-specific chronic pain.

[The Vogt-Koyanagi-Harada syndrome: a rare differential diagnosis of uveitis in childhood. A case report taking into account the revised diagnostic criteria].

Background: The diagnosis of the multisystemic Vogt-Koyanagi-Harada (VKH) syndrome including ocular, neurological and dermatological manifestations is difficult due to the absence of diagnostic serological parameters and the variable onset of clinical signs and symptoms in the course of the disease.

Patient: A 12 year old female patient was admitted to our clinic , presenting with bilateral choroiditis, vitiligo and episodes of headache. After having ruled out an underlying rheumatological or infectious disease, a VKH syndrome was suspected and effectively treated with systemic steroids.

"Periodic fever" without fever: two cases of non-febrile TRAPS with mutations in the TNFRSF1A gene presenting with episodes of inflammation or monosymptomatic amyloidosis.

Background: Tumour necrosis factor (TNF) receptor associated periodic syndrome (TRAPS) is caused by dominant mutations in the TNFRSF1A gene. In typical cases TRAPS begins early in childhood and is characterised by high and remittent fever over a period of 1-4 weeks or longer, accompanied by systemic and local inflammation.

Case Reports: Patient 1 presented with recurrent episodes of weakness, migrating myalgias, arthralgias, exanthema, and chest pain lasting for 1-4 weeks, but without any fever over an initial period of 4 years at least.

The clinical course of a child with CINCA/NOMID syndrome improved during and after treatment with thalidomide.

Chronic, infantile, neurological, cutaneous, and articular (CINCA) syndrome, also known as neonatal-onset multisystem inflammatory disease (NOMID), is a rare autosomal dominant inherited disease. It is characterized by a persistent rash with onset during the neonatal period, neurological and ocular manifestations, and articular involvement with abnormal ossification. Mutations within the CIAS1 gene are found in up to 60% of CINCA cases, but the exact underlying pathogenetic mechanisms causing this disorder are still unclear.

Melorheostosis of the hand in a 7-year-old girl.

Melorheostosis of the hand is rare. We report a 7-year-old girl who presented with a contracture of the left hand. Diagnosis was made by conventional radiography and bone scintigraphy.

[Acute rheumatic fever (ARF) and poststreptococcal reactive arthritis (PSRA)--an update].

Betahemolytic strains of streptococcus A are able to induce a spectrum of immunologically induced diseases, depending on the immunogenic M structure of the bacteria as well as on the genetic determined reaction of the host. In acute rheumatic fever (ARF) the Jones criteria, revised and modified several times and updated in 1992, remain the diagnostic standard. Echocardiography, still not included in the Jones criteria, has become a very important diagnostic tool, especially as half of the ARF induced carditis cases are clinically inapparent.

[Uveitis in conjunction with rheumatological diseases in childhood].

Children with juvenile chronic arthritis are at risk to develop intraocular inflammation depending on the type of arthritis. The pathogenic mechanisms are unclear; however, an association with antinuclear antibodies is well known. In particular young girls with oligoarticular onset of arthritis are affected most often.

Two familial cases with tumor necrosis factor receptor-associated periodic syndrome caused by a non-cysteine mutation (T50M) in the TNFRSF1A gene associated with severe multiorganic amyloidosis.

An adolescent boy had had recurrent episodes of fever, abdominal pain, and arthralgias since the age of 7 years. Progressive renal failure due to renal amyloidosis developed, leading to renal transplant at the age of 14.5 years.

Pulmonary symptoms in Kawasaki disease.

The diagnosis of Kawasaki disease is based on 6 clinical criteria, 5 of which must be fulfilled. The presence of uncommon symptoms in addition to the classic criteria can be as misleading as the lack of common ones. Here we report 2 infants with marked pulmonary symptoms in the course of Kawasaki disease who were initially diagnosed with pneumonia.

Association study of polymorphisms within interleukin-18 in juvenile idiopathic arthritis and bronchial asthma.

Background: Interleukin-18 (IL-18) plays an important role in the regulation of TH1 as well as TH2 immunologic responses and thus in the development of chronic inflammatory diseases. Positive association studies of polymorphisms in IL-18 with different diseases have underlined the involvement of IL-18 in the pathogenetics processes. Our interest was to test polymorphisms of IL-18 for association with a typical TH1-mediated disease--juvenile idiopathic arthritis--and the TH2-mediated disease bronchial asthma in Caucasian children.

The German etanercept registry for treatment of juvenile idiopathic arthritis.

Objective: To describe a registry set up to monitor children treated with etanercept in Germany and Austria.

Methods: Giannini's criteria, duration of morning stiffness, number of swollen, tender and contracted joints, adverse events, and reasons for discontinuation were assessed.

Results: 322 patients with juvenile idiopathic arthritis (JIA) and 12 additional patients with non-JIA rheumatic diagnoses were included.