Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome. Semin Arthritis Rheum 2015 Aug;45(1):91-3
Date
04/08/2015Pubmed ID
25845478DOI
10.1016/j.semarthrit.2015.02.012Scopus ID
2-s2.0-84937729079 (requires institutional sign-in at Scopus site) 41 CitationsAbstract
INTRODUCTION: 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.
METHOD: 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.
CONCLUSION: 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.
Author List
Lindwall E, Singla S, Davis WE, Quinet RJAuthor
Shikha Singla MD Assistant Professor in the Medicine department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Acne VulgarisAdaptor Proteins, Signal Transducing
Adult
Arthritis, Infectious
Cytoskeletal Proteins
Humans
Male
Mutation
Pyoderma Gangrenosum
Syndrome
