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OBJECTIVES To analyze whether there were clinical differences between genetically positive and negative patients fulfilling periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome criteria and to test the accuracy of the Gaslini diagnostic score for identifying patients with PFAPA syndrome with higher probabilities of(More)
OBJECTIVE To analyze the long-term impact of the R92Q mutation of TNFRSF1A in children with periodic fever, in comparison with children with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) with TNFRSF1A structural mutations and children with periodic fever of unknown origin fulfilling the criteria for periodic fever, aphthosis,(More)
OBJECTIVE To evaluate the actual impact of MEFV mutations on clinical manifestations associated with fever attacks in Caucasian children with periodic fever. METHODS 113 children carrying MEFV mutations (44 with mutations in two alleles, 69 heterozygous) and 205 children negative for mutations in genes associated with periodic fevers were analysed. The(More)
Eucalyptus is known as a potential cause of cutaneous diseases due to contact with oil or pollens, and of respiratory allergic diseases due to exposure to pollens. We report the case of a 30-year-old woman with asthma and rhinoconjunctivitis in which symptoms appeared to be exacerbated by Eucalyptus pollens and by ingestion of an infusion containing(More)
In developed countries, scurvey is quite rare and can be seen in children with severely restricted diets, related to psychiatric or developmental problems. Clinical presentation can include arthralgias/arthritis, myalgias, hemarthrosis, purpura and ecchymosis. We report two cases of nutritional vitamin C deficiency, who have been misdiagnosed as having(More)
OBJECTIVES To evaluate the performance of the Birmingham Vasculitis Activity Score (BVAS) v3 and the Disease Extent Index (DEI) for the assessment of disease activity in 4 primary childhood (c-) systemic vasculitides. METHODS Patients fulfilling the EULAR/PRINTO/PRES (Ankara) c-vasculitis classification criteria for Henoch-Schönlein purpura (HSP),(More)
Although epidemiological and clinical features strongly suggest an infectious cause, the etiology of Kawasaki disease (KD) still remains unknown. The hypothesis that bacterial toxins acting as superantigens could trigger the cascade of events leading to KD has been widely debated. We report four children with typical KD in whom a serological evidence of(More)