A NEW SYNDROME OF CROHNS-DISEASE AND PACHYDERMOPERIOSTOSIS IN A FAMILY

Few syndromic associations with Crohn's disease are described, The aim of this study was to characterize a new syndrome of Crohn's disease a ssociated with pachydermoperiostosis in 3 brothers, Three probands, 6 siblings, both parents, 20 of 21 third-generation relatives, and 9 spo usal controls were evaluated, Serological evaluation for antineutrophi l cytoplasmic antibodies and human leukocyte antigens as well as genet ic testing for tumor necrosis factor microsatellites, intercellular ad hesion molecule 1 polymorphisms, the interleukin 1 receptor antagonist gene, and the interleukin 1 beta gene were performed, Only the 3 prob ands were affected and developed pachydermoperiostosis between ages 14 and 17 years. Pachydermoperiostosis preceded Crohn's ileocolitis by 6 and 20 years in two probands, excluding secondary hypertrophic osteoa rthropathy. Two probands were antineutrophil cytoplasmic antibody posi tive vs. 1 of 27 unaffected relatives (P < 0.001, chi(2)). Haplotypes for human leukocyte antigen and tumor necrosis factor microsatellites were discordant. The probands' generation was homozygous for the commo n allele 1 of the interleukin 1 receptor antagonist and interleukin 1 beta genes. Two probands carried a rare polymorphism of the intercellu lar adhesion molecule 1 gene. A new syndrome of Crohn's disease and pa chydermoperiostosis associated with antineutrophil cytoplasmic antibod ies is described. Inheritance is most likely autosomal recessive by pe digree, No clear association was found between this syndrome and the g ene regions evaluated.