PAPASH Syndrome: A Case Report and Lessons for Clinical Practice.

INTRODUCTION

PAPASH spectrum syndrome is a rare autoinflammatory condition encompassing psoriatic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa. Despite the individual prevalence of these conditions, their concurrent manifestation poses a diagnostic challenge that requires high clinical suspicion. This case illustrates the consequences of delayed recognition of this condition and underscores the crucial need for a multidisciplinary approach to optimize management.

CASE PRESENTATION: We report the case of a 34-year-old African American man with a prior diagnosis of rheumatoid arthritis who developed migratory arthritis, pustular acne, and hidradenitis suppurativa. Despite suggestive clinical features, delayed access to biologic therapy contributed to disease progression and resulted in hospitalization. After extensive genetic and clinical evaluation, he was diagnosed with PAPASH syndrome.

DISCUSSION: PAPASH syndrome is linked to mutations in the PSTPIP1 gene and the overexpression of specific chemokines, which dysregulate interleukin-1 signaling and cause persistent inflammation. Although tumor necrosis factor-α inhibitors remain first-line therapy, limited literature exists on comprehensive treatment strategies, and further research is needed. This case demonstrates how ongoing diagnostic ambiguity and the absence of clear treatment guidelines can complicate the management of PAPASH syndrome.

CONCLUSIONS

This case emphasizes the importance of prompt identification of PAPASH syndrome in patients presenting with overlapping inflammatory conditions and highlights the need for clinical vigilance, timely initiation of biologic agents, and coordinated care to improve outcomes in this rare but serious disorder.