Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome.

@article{Lindwall2015NovelPG,
  title={Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome.},
  author={Elvira Lindwall and Shikha Singla and William E Davis and Robert J Quinet},
  journal={Seminars in arthritis and rheumatism},
  year={2015},
  volume={45 1},
  pages={91-3}
}
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… CONTINUE READING
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