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

Lindwall, Elvira, Singla, Shikha, Davis, William E. and Quinet, Robert J. (2015) Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome. Seminars in Arthritis and Rheumatism, 45 1: 91-93. doi:10.1016/j.semarthrit.2015.02.012


Author Lindwall, Elvira
Singla, Shikha
Davis, William E.
Quinet, Robert J.
Title Novel PSTPIP1 gene mutation in a patient with pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome
Journal name Seminars in Arthritis and Rheumatism   Check publisher's open access policy
ISSN 1532-866X
0049-0172
Publication date 2015-08-01
Year available 2015
Sub-type Article (original research)
DOI 10.1016/j.semarthrit.2015.02.012
Open Access Status Not Open Access
Volume 45
Issue 1
Start page 91
End page 93
Total pages 3
Place of publication Maryland Heights, MO United States
Publisher W.B. Saunders
Collection year 2016
Language eng
Formatted abstract
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.
Keyword Pyogenic arthritis
Pyoderma gangrenosum and acne syndrome
PAPA syndrome
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Non HERDC
School of Medicine Publications
 
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