The expanding spectrum of clinical phenotypes associated with PSTPIP1 mutations: from PAPA to PAMI syndrome and beyond

Abstract

Mutations in the PSTPIP1 gene encoding proline-serine-threonine-phosphatase interactive protein 1 were first identified in an autosomal dominant syndrome called PAPA associated with pyogenic sterile arthritis, pyoderma gangrenosum (PG) and cystic acne.1,2 . We report a patient with an autoinflammatory syndrome called PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome.3 A 23-year-old man had a 3-year-history of skin ulcerations. This article is protected by copyright. All rights reserved.