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PAPA-like syndrome with heterozygous mutation in the MEFV gene.

Cathal O'ConnorLisa KielyCynthia C B B HeffronJ RyanMary Bennett
Published in: Clinical and experimental dermatology (2021)
A patient presented with a history of recurrent pyoderma gangrenosum, arthritis and extensive acne, prompting a genetic workup for PAPA syndrome. An MEFV mutation was identified and a change in therapeutic strategy from anakinra to colchicine was successful.
Keyphrases
  • case report
  • genome wide
  • copy number
  • rheumatoid arthritis
  • early onset
  • transcription factor
  • hidradenitis suppurativa