Ann Rheum Dis 70:1168-1170 doi:10.1136/ard.2009.126185
  • Letters

Variable expression and treatment of PAPA syndrome

  1. Jos W M van der Meer2
  1. 1Department of Pediatric Rheumatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  2. 2Department of General Internal Medicine, Radboud University Nijmegen Medical Centre, Nijmegen Institute for Infection, Inflammation and Immunity (N4i), Nijmegen, The Netherlands
  1. Correspondence to Dr Meike A Schellevis, Department of Pediatric Rheumatology, UMC St Radboud, Postbus 9101,6500 HB Nijmegen, The Netherlands; meike{at}
  • Accepted 25 September 2010
  • Published Online First 16 February 2011

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 …