Pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome is an autosomal dominant autoinflammatory syndrome caused by a missense mutation in the PSTPIP1 gene on the long arm of chromosome 15. So far only three families have been described.1,–,7

In this letter we would like to describe three members of a new family with PAPA syndrome with variable symptoms and the effects of different treatments, including successful treatment during pregnancy with the interleukin 1 (IL-1) receptor antagonist anakinra.

Case 1: A girl born in 1999. In 2002 she presented with an acute arthritis of the left ankle, accompanied by fever and an acute phase response (table 1). Septic arthritis was suspected, but blood and synovial fluid cultures remained negative. The symptoms persisted despite antibiotic treatment and diminished only gradually. After another episode of sterile arthritis, PAPA syndrome was suspected and genetically confirmed (c 688G>A (p.Ala 230 Thr) mutation in exon …