Establishment of a Registry for Diffuse Sclerosing Osteomyelitis of the Mandible (DSOM)

Statement of the Problem: DSOM is a rare and vexing disorder with a paucity of reported case series, unclear etiology, and an absence of evidence on which to base treatment. With a prevalence estimate from Sweden of 1 per 200,000 adults, this projects to 1,500 affected individuals in the US. The absence of reported cases likely translates to underdiagnosis and ineffective treatment. A registry has considerable merit in rare disease and allows systematic establishment of natural history, treatment outcome, and health-related quality of life. Our aim was to establish a US registry of patients with DSOM with rigorously assessed clinicopathologic diagnosis. Materials and Methods: In 2003, we mailed a letter to members of the AAOMS (5,914 oral and maxillofacial surgeons (OMFS)) and American Academy of Oral and Maxillofacial Pathology (310 oral pathologists). The letter requested a response (yes or no) by return postcard to assess if the practitioner had a patient who met diagnostic criteria: 1) intermittent pain and swelling of the mandible without obvious cause for at least 3 months in the absence of pus, fistulae, or sequestration; plus either 2) radiographic evidence of osteosclerosis or ill-defined osteolytic appearance in sclerotic zones; or 3) biopsy evidence of inflammatory changes with fibrous inclusion in medullary bone and bone sclerosis, often with osteoblastic or osteoclastic activity, and bone necrosis. Two subsequent letters were mailed to nonresponders. For each case identified, the OMFS was asked to complete a questionnaire about diagnosis, natural history, comorbidity, treatment, and outcome. Because of confidentiality, the OMFS was asked to address and mail a questionnaire to the patient focused on symptoms and quality of life. Afterwards, radiographic studies and biopsies were evaluated centrally by a panel to confirm the diagnosis. Method of Data Analysis: Response proportion was calculated in addition to prevalence of OMFS with cases. Patient-rated benefit of each treatment was calculated and compared using a test of two proportions for linear trend. Results: The response rate was 37% overall (2327/ 6224). Of these, 196 OMFS (8.4% of all responders) reported at least one case in their practice that met these criteria. In total, 371 cases were reported from 196 OMFS; no oral pathologist reported a case to the registry. To date, there are 86 reported cases; 40 have been evaluated centrally for diagnostic criteria. Of these, 21 of 40 (52%) were confirmed with DSOM; 11 (28%) had florid osseous dysplasia and 9 (22%) had other diagnoses. Of the 21 with DSOM, 79% are female ranging in age from 7-72 yrs; all but one are white, and only 2 have SAPHO syndrome. Pain is reported as the most bothersome symptom in 78%, with swelling (83%), trismus (61%), lip paresthesia (61%), jaw tenderness (78%), and difficult chewing (61%) by the majority. Oral and IV antibiotics, NSAIDs, and surgical decortication was used in half of cases. All these therapies were reported to be very or somewhat beneficial by at least 50%; one treatment was no more beneficial than another. Conclusion: While no answer is yet apparent for the etiology or treatment of DSOM, use of a national registry has considerable merit as an approach to evaluate outcomes.