A new article published in Giornale Italiano di Dermatologia e Venereologia stated that pyogenic arthritis, pyoderma gangrenosum (PG) and acne (PAPA) syndrome is an autosomal dominant autoinflammatory syndrome that occurs due to mutations in proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) gene, presenting with cutaneous and articular manifestations.

Here, the authors reported that other autoinflammatory syndromes caused by mutations in PSTPIP1 gene or characterized by clinical findings overlapping with those found in PAPA syndrome have been recently included in the group of PAPA spectrum disorders. These disorders are – PASH (PG, acne and hidradenitis suppurativa [HS]); PAPASH (PASH associated with pyogenic sterile arthritis); PsAPASH (PASH combined with psoriatic arthritis [PsA]; PASS (PG, acne, ankylosing spondylitis, with or without HS); PAC (PG, acne and ulcerative colitis [UC]); and PAMI syndrome (PSTPIP1-associated myeloid-related-proteinemia inflammatory syndrome).

This article informed that apart from PAPA and PAMI, no specific pathogenetic mutations have been identified in these syndromes. Dermatologists should be aware that PG, acne and HS may represent cutaneous signs hiding the presence of these rare entities. Systemic corticosteroids, immunosuppressants and biologics – such as, interleukin (IL)-1 antagonists and tumor necrosis factor (TNF) α inhibitors, are current therapies for these diseases. It was stated that newer approaches in the management of these conditions involve pathogenesis-driven treatments.

Source: Giornale Italiano di Dermatologia e Venereologia. 2020 Jul 2. doi: 10.23736/S0392-0488.20.06629-8.