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- Title
Melorheostosis: A Retrospective Clinical Analysis of 24 Patients at the Mayo Clinic.
- Authors
Smith, Gabriel C.; Pingree, Matthew J.; Freeman, Laura A.; Matsumoto, Jane M.; Howe, Benjamin M.; Kannas, Stephanie N.; Pyfferoen, Mary D.; Struss, Leah T.; Wenger, Doris E.; Amrami, Kimberly K.; Matsumoto, Martha; Jurisson, Mary L.
- Abstract
<bold>Background: </bold>Current understanding of the clinical features of persons with melorheostosis is restricted primarily to individual case reports and small case series.<bold>Objective: </bold>To assess the clinical features of patients with melorheostosis treated at our institution from 1972 through 2010.<bold>Design: </bold>Chart review.<bold>Setting: </bold>Tertiary academic medical center.<bold>Participants: </bold>Twenty-three patients with "definite" and one patient with "probable" melorheostosis based on radiographic criteria.<bold>Methods: </bold>The eligible study cohort was identified through the Rochester Medical Index database. Further diagnostic confirmation of patients with melorheostosis was performed by radiographic review.<bold>Main Outcome Measurements: </bold>We evaluated age at first visit to our institution, gender, affected body area, number of bones affected, presenting symptoms, surgical evaluation, and therapies provided.<bold>Results: </bold>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%).<bold>Conclusions: </bold>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.<bold>Level Of Evidence: </bold>IV.
- Subjects
AGE distribution; RANGE of motion of joints; RETROSPECTIVE studies; DISEASE complications; MELORHEOSTOSIS; DIAGNOSIS; THERAPEUTICS
- Publication
PM & R: Journal of Injury, Function & Rehabilitation, 2017, Vol 9, Issue 3, p283
- ISSN
1934-1482
- Publication type
journal article
- DOI
10.1016/j.pmrj.2016.07.530