Tumor necrosis factor receptor associated periodic fever syndrome with photographic evidence of various skin disease and unusual phenotypes: case report and literature review.

OBJECTIVES

To report a case of tumor necrosis factor receptor associated periodic fever syndrome (TRAPS) with unusual clinical phenotypes and a systematic review.

METHODS

The relevant English literature of TRAPS was searched using the keywords TRAPS, autoinflammatory disease, and gene mutation. Original and review articles were reviewed and the clinical scenarios were exemplified with a case report.

RESULTS

A 58-year-old Jewish woman with Eastern European Ashkenazic background presented with photographic evidence of various skin disease, including previously unreported vesicles and alopecia, as well as other systemic manifestations. The complaints of urinary foreign bodies prompted a discovery of ureteral strictures with atypia perhaps from autoinflammation. A R92Q gene mutation of TNFRSFA1 was detected. The clinical manifestations of this disease are protean and its pathogenesis is complex, involving the interaction of wild-type and mutated gene products, innate immune system, and proinflammatory cytokines. Glucocorticoid and anticytokine therapy is generally efficacious but some cases remain refractory to the current treatment.

CONCLUSIONS

TRAPS is a systemic autoinflammatory disease with variable clinical phenotypes associated with gene mutations. Recognition of the unusual phenotypes may enhance early accurate diagnosis.