Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome): report of a sporadic case without an identifiable mutation in the CD2BP1 gene.

摘要

Thus far, five families with PAPA syndrome have been reported (Table I). Point mutations in the CD2BP1 gene (at either A230T or E250Q) have been confirmed in all of the families. According to the available data, the penetrance of PAPA syndrome can be as high as 100%. No genetic data have been disclosed for the sporadic cases of patients having the triad of PAPA syndrome with a negative family history, as in our case. PAPA syndrome has been referred to as familial recurrent arthritis.