Melorheostosis: A Retrospective Clinical Analysis of 24 Patients at the Mayo Clinic.

Abstract Background Current understanding of the clinical features of persons with melorheostosis is restricted primarily to individual case reports and small case series. Objective To assess the clinical features of patients with melorheostosis treated at our institution from 1972 through 2010. Design Chart review. Setting Tertiary academic medical center. Participants Twenty-three patients with definite and one patient with probable melorheostosis based on radiographic criteria. Methods The eligible study cohort was identified through the Rochester Medical Index database. Further diagnostic confirmation of patients with melorheostosis was performed by radiographic review. Main Outcome Measurements We evaluated age at first visit to our institution, gender, affected body area, number of bones affected, presenting symptoms, surgical evaluation, and therapies provided. Results The average age at first evaluation at our clinic was 36.5 years (median 41.5 years, range 3-68 years). The female to male ratio was 4:1. The lower extremity was most commonly affected (66.6%), followed by upper extremity (33.3%), spine (16.6%), and head (8.3%). One-third of patients had involvement of a single bone; two-thirds had multiple bone involvement. Pain was the most common presenting concern (83.3%), followed by deformity (54.1%), limitation of movement (45.8%), numbness (37.5%), and weakness (25.0%). Most patients had a physician evaluation (87.5%); patients also underwent orthopedic surgery (45.8%), physical therapy (33.3%), and occupational therapy (12.5%). Conclusions Melorheostosis is a rare sclerotic bone disease resulting in pain, deformity, and dysfunction. An interdisciplinary approach to care should include nonoperative and operative evaluation, as well as appropriate therapies. A prospective approach to evaluation, including imaging and physical examinations, would provide valuable longitudinal data. Level of Evidence IV