Diffuse chronic sclerosing osteomyelitis and the synovitis, acne, pustolosis, hyperostosis, osteitis (SAPHO) syndrome in two sisters

Two sisters with diffuse chronic sclerosing osteomyelitis of the mandible a nd the humerus and the synovitis, acne, pustolosis, hyperostosis and osteit is syndrome (SAPHO syndrome) are presented. The diagnoses of diffuse chroni c sclerosing osteomyelitis at the age of 12 years and 27 years, respectivel y; were based on typical medical history, clinical symptoms and radiographi c, histologic and scintigraphic findings. Because skin lesions and scintigr aphic enhancement of the sternoclavicular joints with hyperostosis were pre sent, a SAPHO syndrome was diagnosed in both sisters. Microbiological cultu res of biopsy specimens revealed coagulase-negative Staphylococcus aureus a t the humerus and Haemophilus parainfluenzae, Streptococcus, Actinomyces an d Veilonella species at the mandible. Repeated operative procedures, includ ing decortications, resection and reconstruction, and multiple histologic a nd microbiologic studies were performed over a period of up to 20 years. Si nce HLA typing yielded identical gene loci, we suggest that hereditary and autoimmune factors may play a role in the pathogenesis of these cases.