Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome.
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-...
| Publicado en: | Seminars in Arthritis & Rheumatism Vol. 45; no. 1; pp. 91 - 94 |
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| Autores principales: | , , , |
| Formato: | research systematic review tables/charts Journal Article |
| Publicado: |
W B Saunders
Aug2015
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=109821935&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 109821935 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 00490172 4GQ jtl: Seminars in Arthritis & Rheumatism issn: 00490172 maglogo: N pubinfo: dt: Aug2015 vid: 45 iid: 1 pid: 1351 pub: W B Saunders place: Philadelphia, Pennsylvania artinfo: ui: 109821935 108507776 10.1016/j.semarthrit.2015.02.012 NLM25845478 109821935 ppf: 91 ppct: 3 formats: tig: atl: Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome. aug: au: Lindwall, Elvira Singla, Shikha Davis, William E. Quinet, Robert J. affil: Rheumatology, Ochsner Medical Center, New Orleans, LA sug: subj: Arthritis, Infectious Familial and Genetic Pyoderma Gangrenosum Familial and Genetic Acne Vulgaris Familial and Genetic Male Adult Mutation PubMed Systematic Review Case Studies Human Adult: 19-44 years Male ab: 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. pubtype: Academic Journal doctype: research systematic review tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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