title: Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome.
abstract: BACKGROUND
  Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autosomal dominant disease that usually presents in childhood with recurrent sterile arthritis. As the child ages into puberty, cutaneous features develop and arthritis subsides. We report the case of a now 25-year-old male patient with PAPA syndrome with the E250K mutation in PSTPIP1. We also present a systematic literature review of other PAPA cases.
  
  
  METHODS
  We conducted a literature search of PubMed using the following search terms: E250K mutation, PSTPIP1, and PAPA.
  
  
  RESULTS
  PAPA syndrome is caused by mutations on chromosome 15q affecting the proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1) gene, also known as CD2-binding protein 1 (CD2BP1). The reported cases of PAPA syndrome currently in the literature involve mutations in A230T and E250Q. One case of a novel E250K mutation has been reported, which presented with a different phenotype to previously described cases of PAPA syndrome.
  
  
  CONCLUSIONS
  With variation present between disease presentations from case to case, it is possible that the spectrum of PAPA syndrome is wider than currently thought. Further research is needed which may uncover an as-yet undiscovered genetic abnormality linking these interrelated diseases together.
authors.affiliation: Rheumatology, Ochsner Medical Center, New Orleans, LA.
authors.forename: Elvira
authors.initials: E
authors.lastname: Lindwall
authors.affiliation: Rheumatology, Ochsner Medical Center, New Orleans, LA. Electronic address: shikha.singla@gmail.com.
authors.forename: Shikha
authors.initials: S
authors.lastname: Singla
authors.affiliation: Rheumatology, Ochsner Medical Center, New Orleans, LA.
authors.forename: William E
authors.initials: WE
authors.lastname: Davis
authors.affiliation: Rheumatology, Ochsner Medical Center, New Orleans, LA.
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Quinet
mesh_terms: D000152:Acne Vulgaris / Q000235:genetics*; D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D001170:Arthritis, Infectious / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D017511:Pyoderma Gangrenosum / Q000235:genetics*; D013577:Syndrome
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; C486382:PSTPIP1 protein, human
keywords: PAPA syndrome; Pyoderma gangrenosum and acne syndrome; Pyogenic arthritis