A case of pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome successfully treated with combination therapy of corticosteroids, cyclosporine, and colchicine

Abstract

Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is an autoinflammatory disease characterized by destructive inflammation of the skin and joints in association with genetic mutation of the Pombe Cdc15 homology family member PSTPIP1. Because a therapeutic strategy specific to this disease has not been established, treatment is always challenging for clinicians. We herein describe a case of PAPA syndrome with typical clinical features successfully treated with combination therapy of traditional anti-inflammatory drugs. A 39-year-old man presented with painful plaques on his extremities that had been present for several years. Large brown plaques were observed on both arms and legs with numerous fistulae and ulcers. Cystic acne lesions subsequently appeared on his cheeks and upper back. We diagnosed the patient with PAPA syndrome based on the presence of typical clinical features; however, no genetic mutations of exon-1 to 15 of PSTPIP1 were found. Although recent reports have emphasized the efficacy of biologics that target inflammatory cytokines such as antibodies to interleukin-1β and tumor necrosis factor-α, use of these agents remains uncovered by health insurance in Japan, showing unresolved discrepancy in practical use for clinicians. The present patient was successfully treated with combined therapy of a corticosteroid, colchicine, and cyclosporine A, encouraging the use of this combination therapy as a novel therapeutic option.

Peristomal pyoderma gangrenosum successfully treated with cyclo-sporine

“…It is also noteworthy that cyclosporin was demonstrated useful for initial and/or maintenance therapy as the practical treatment for intractable inflammatory diseases [6,7] .…”

Autoinflammatory disease, Nakajo-Nishimura syndrome and further perspective

“…In the past, papers have introduced various autoinflammatory diseases [1,2] . Recently, the concept of these diseases has expanded, and intractable psoriasis, severe acne, and similar related diseases are occasionally included in this disease entity [3][4][5][6][7] .…”