Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q

Pyoderma gangrenosum, cystic acne, and aseptic arthritis are clinically dis tinct disorders within the broad class of inflammatory diseases. Although t his triad of symptoms is rarely observed in a single patient, a three-gener ation kindred with autosomal-dominant transmission of these three disorders has been reported as "PAPA syndrome" (MIM 604416). We report mapping of a disease locus for familial pyoderma gangrenosum-acne-arthritis to the long arm of chromosome 15 (maximum two-point LOD score, 5.83; recombination frac tion [theta] 0 at Locus D15S206). Under the assumption of complete penetran ce, haplotype analysis of recombination events defined a disease interval o f 10 cM, between D15S1023 and D15S979, Successful identification of a singl e disease locus for this syndrome suggests that these clinically distinct d isorders may share a genetic etiology. These data further indicate the role of genes outside the major histocompatibility locus in inflammatory diseas e.