Introduction PAPA syndrome (pyogenic arthritis, pyoderma gangrenosum and acne syndrome) is a rare autoinflammatory disease caused by mutations in the PSTPIP1 gene. This disease is difficult to treat, but the combination of prednisone, an IL-1 inhibitor and a TNF-inhibitor has, in our experience, helped even the most severely affected patients. Treatment with anakinra appears to prevent most of ...

Introduction Autoinflammatory disorders are a group of diseases whose nosology and etiology are only partly understood. Among Mendelian forms, familial Mediterranean fever (FMF), due to mutations in MEFV, is one of the most frequent. Most MEFV mutations are located in exon 10 and are usually associated with an autosomal recessive mode of inheritance. MEFV encodes pyrin, which interacts with PST...

Disseminated gonococcal infection (DGI) is an uncommon complication of Neisseria gonorrhoeae infection, its manifestation varies from a classic arthritis-dermatitis syndrome to uncommon pyogenic infections of several organs. Herein, we reported atypical presentation of DGI with subcutaneous abscess of right knee, pyomyositis of right lower extremity, and subsequently complicated by Escherichia ...

Methods The data analysed in the study were extracted from the Eurofever registry, which is hosted in the PRINTO website (http://www.printo.it). The patients were included in the study in the presence of mutations in the PSTPIP1 gene or, in genetically negative patients, in the presence of at least two of the following clinical manifestation: recurrent pyogenic arthritis, pyoderma gangrenousm o...

Methods The HRF panel includes MEFV, MVK, NLRP3, TNFRSF1A, PSTPIP1, LPIN2 and ELANE, which are associated with familial Mediterranean fever (FMF), hyper-IgD syndrome, cryopyrin-associated periodic syndrome, tumor necrosis factor receptor-associated periodic syndrome (TRAPS), pyogenic sterile arthritis-pyoderma gangrenosum and acne syndrome, Majeed syndrome, and cyclic/severe congenital neutrope...

Hip and pelvic pain during pregnancy or after delivery is a common problem in young females, and in most cases this problem has a self-limiting course. The patient described in this case suffered from severe hip pain after childbirth. MR imaging study was performed and it showed arthritis of bilateral hip joints and osteomyelitis of femoral heads with an abscess in the surrounding muscle. Infec...

Thirteen patients suffering from rheumatoid arthritis had 19 stress fractures of the tibia or fibula. These patients characteristically presented with sudden, severe, unexplained pain with localised tenderness just below the knee or above the ankle. In seven patients examination of the adjacent joint indicated a flare-up of disease activity or a pyogenic arthritis. In six patients the diagnosis...