Pyogenic Arthritis, Pyoderma Gangrenosum, Acne, and Hidradenitis Suppurativa (PAPASH): A New Autoinflammatory Syndrome Associated With a Novel Mutation of the PSTPIP1 Gene

Marzano AV, Trevisan V, Gattorno M, et al. — Tue, 09 Apr 2013 00:00:00 GMT

The PASH triad (pyoderma gangrenosum, acne, and hidradenitis suppurativa) has recently been described in 2 unrelated patients as a new entity within the spectrum of autoinflammatory syndromes. PASH syndrome is similar to PAPA syndrome (pyogenic arthritis, acne, and pyoderma gangrenosum) but differs insofar as it lacks the associated arthritis and has a different genetic basis. PAPA syndrome is caused by mutations in the proline-serine-threonine-phosphatase protein 1 (PSTPIP1) gene (OMIM:606347) that is involved in regulating innate immune responses, whereas no mutations have yet been detected in PASH syndrome.

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Pyogenic Arthritis, Pyoderma Gangrenosum, Acne, and Hidradenitis Suppurativa (PAPASH): A New Autoinflammatory Syndrome Associated With a Novel Mutation of the PSTPIP1 Gene