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Article

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

Seminars in arthritis and rheumatism - 1 Aug 2015

Lindwall Elvira, Singla Shikha, Davis William E, Quinet Robert J

Abstract excerpt

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...

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Identifiers

PMID: 25845478
DOI: 10.1016/j.semarthrit.2015.02.012

Genes

PSTPIP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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