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PAPA syndrome
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PAPA syndrome

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Contributors: Tyler Werbel, Susan Burgin MD
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Synopsis

PAPA syndrome is a rare autosomal dominant disorder characterized by the triad of pyogenic sterile arthritis, pyoderma gangrenosum (PG), and acne.

Arthritis typically presents in childhood and is often how the disorder initially manifests. Joint involvement is monoarticular, aseptic, and characterized by a prominent neutrophilic infiltrate. The arthritis is recurrent and often induced by a traumatic event, but episodes can occur spontaneously. As the disease progresses, joint erosion can ensue, eventually leading to articular destruction.

Cutaneous involvement varies. Nodulocystic acne and PG typically develop in puberty and persist into adulthood. However, pathergy is frequently observed, so minimal trauma may induce ulcers earlier in life. In PAPA syndrome, PG is typically similar to its classical presentation and the inflammatory components of acne typically predominate.

Various mutations in the PSTPIP1 gene on chromosome 15q have been identified in PAPA syndrome. These mutations impair the interaction between PSTPIP1 and PTP-PEST phosphatases, causing the hyperphosphorylation of PSTPIP1. It is suggested that this leads to the activation of the inflammasome, overproduction of IL-1ß, and thus neutrophil-mediated inflammation.

For more information, see OMIM.

Codes

ICD10CM:
M04.8 – Other autoinflammatory syndromes

SNOMEDCT:
724015007 – Pyogenic arthritis, pyoderma gangrenosum, acne syndrome

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Last Reviewed: 02/27/2019
Last Updated: 06/12/2019
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PAPA syndrome
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PAPA syndrome : Erythema, Painful skin lesions
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