PAPASH Syndrome: The first case report from Syria

Abstract

PAPASH syndrome is a rare autoinflammatory syndrome consisting of four essential components: pyogenic arthritis (PA), pyoderma gangrenosum (PG), acne (A), and suppurative hidradenitis (SH). The true etiology is unknown, yet genetic analysis has shown associations with PSTPIP1 mutations, which ultimately lead to elevations in interleukin-1 activity. Herein, we report a case of painful ulcers in a 47-year-old Syrian male located on the legs and swelling of both ankles, with a bad condition and hyperthermia. He also had a history of acne, suppurative hidradenitis, fistulas, and abscesses in the buttock area. The results of skin biopsy, laboratory testing, joint aspiration, and poor responding to antibiotic treatment excluded the infective nature of the case. To our knowledge, this was the first case of PAPASH syndrome diagnosed in Syria. Key words: PAPASH syndrome; Pyoderma gangrenosum; Hidradenitis suppurativa; Hereditary autoinflammatory diseases; Acne