INTRODUCTION The periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is a non-hereditary idiopathic febrile syndrome belonging to the group of autoinflammatory diseases. PFAPA does not cause long-lasting sequelae. An early diagnosis provides treatment possibilities for the patient and comfort to the family. MATERIAL AND METHODS This study is a retrospective...

Results We found the NLRP3 variant Q703K in 13 patients. Ten were PFAPA patients among 97 from our cohort; one had a CAPS phenotype and two an undefined autoinflammatory disease (UAID): 9 boys and 4 girls with a median age of 18 months at disease onset. Family history was positive in 6 PFAPA and one UAID patients. For PFAPA, the median duration of fever was 4 days; the median interval was 4 wee...

BACKGROUND PFAPA syndrome (Periodic Fever, Aphtas, Pharyngitis and cervical Adenopathies) is one of the causes of periodic fever in pediatrics and it is characterised by high fever, pharyngitis, cervical adenitis and aphtous stomatitis. Its etiopathogeny is unknown. The diagnosis is clinical and the findings of laboratory are unspecified. One or two doses (1 mg/kg) of oral prednisone are enough...

cavity, especially pharyngitis, stomatitis and high fever, in episodes that last for 3 to 5 days. The most significant aspect in these patients is that whatever the adopted therapy (antibiotics, steroids, NSAIDS), two things invariably occur: the first one is that the patients improve, and the second is that the disease reappears approximately one month later. Periodic fevers have been a concer...

OBJECTIVE To assess the practicability of integrated medical and surgical management and the effectiveness of tonsillectomy in children with PFAPA syndrome (periodic fever, aphthous stomatitis, pharyngitis, and cervical lymphadenopathy). DESIGN A prospective study. SETTING Secondary pediatric and otolaryngological university center. PATIENTS Of 30 patients evaluated for periodic fever, 18...

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, pharyngitis, and adenitis syndrome (PFAPA). M...

Periodic fever with aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome is an autoimmune disorder and the most common disorder characterized by periodic fever in children. A male patient has been followed up from 11 months to 10 years of age because of repeated high fever. We prescribed antifebriles and antibiotics for each febrile episode without a beneficial effect to him each tim...

Results RCTs provide evidence for rilonacept and canakinumab in CAPS, colchicine in FMF and (adeno)tonsillectomy in PFAPA syndrome. For Behçet disease, RCTs have been conducted on the effect of several drugs, including colchicine, azathioprine, cyclosporine A, interferon alfa, etanercept, sucralfate suspension and pimecrolimus. Descriptive studies suggest that NSAIDs and corticosteroids are hig...

Marshall’s syndrome or PFAPA (periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis) syndrome is a pediatric periodic disease characterized by recurrent febrile episodes associated with head and neck symptoms. The origin of this syndrome, which can last for several years, is unknown. During healthy periods, patients grow normally. Differential diagnosis includes other diseases cha...