PAPA-like syndrome with heterozygous mutation in the MEFV gene.
Cathal O'ConnorLisa KielyCynthia C B B HeffronJ RyanMary BennettPublished 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.