Renal involvement as a potential feature of pyogenic arthritis, pyoderma gangrenosum, and acne syndrome with E250K mutation of PSTPIP1 gene

Abstract

Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare, autosomal dominant disease associated with mutations in the proline-serine-threonine phosphatase-interacting protein (PSTPIP1) gene, also known as CD2 (cluster of differentiation 2)-binding protein 1 (CD2BP1), located on chromosome 15q24.3. PAPA syndrome classically presents in childhood with recurrent sterile arthritis, with subsequent development of nodulocystic acne and recurrent nonhealing ulcers resembling pyoderma gangrenosum (PG).