Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome

Definition:

Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autoimflammatory disease with early onset, developing erosive arthritis. It is inherited in an autosomal dominant fashion. Patients typically develop cystic acne, abscesses and cutaneous ulcers, including pyoderma gangrenosum-like lesions. PAPA syndrome is caused by gain-of function mutations in PSTPIP1, a protein capable of associating with pyrin. Mutated PSTPIP1 reduces the inhibitory role of pyrin on inflammasome activation and therefore, potentiates the IL-1beta pathway. Elevated TNFalpha levels are also described.

References:

[1]. André Veillette, et al. PEST family phosphatases in immunity, autoimmunity, and autoinflammatory disorders. Immunol Rev. 2009 Mar;228(1):312-24. [Content Brief]

[2]. Carol A Wise, et al. Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet. 2002 Apr 15;11(8):961-9. [Content Brief]

[3]. N M Lindor, et al. A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. Mayo Clin Proc. 1997 Jul;72(7):611-5. [Content Brief]

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