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Melorheostosis Involvement in the Upper Extremity
Stephanie Nicole Toomey, OTR/L, CHT; Mary L. Jurisson, MD; Mary Pyfferoen, PT; Leah Johnson, OTR/L; Mayo Clinic
Mayo Clinic, Rochester, MN, USA

Objective: The purpose of this study is to describe upper extremity soft tissue involvement in patients with melorheostosis. Design:A retrospective chart review was performed from 1972 to 2010 in a large outpatient setting. Interventions:Not applicable. Main Outcome Measures:Data was abstracted and analyzed by patient demographics, affected bones, symptom presentation associated symptoms, and rehabilitation services. Symptom presentation was further broken down and assessed by joint pain, muscle pain, presence of a soft tissue mass, numbness, functional limitations and weakness. Results:Our medical records were searched for the diagnosis of melorheostosis. Patients with a billing code final diagnosis of melorheostosis were used in this study. A total of 36 patient charts were reviewed. Thirteen patients were identified with upper extremity involvement (scapula to phalanges). Pain was reported in 11 /13 (84.6%) patients. Numbness was reported in 6/13 (46.1%) patients. Limited range of motion was reported in 10/13 (76.9%) patients. Rehabilitation services were provided to 9/13 (69.2%) patients. Surgery was performed on 9/13 (69.2%) patients for varius upper extremity soft tissue needs, including carpal tunnel syndrome, first web space lengthening, amputation, trigger finger release, and joint contracture release with full thickness skin grafting. Conclusion:Impairments and functional limitations were noted in the majority of patients with upper extremity involvement. Although a cause and effect relationship can not be determined, pain, numbness and limited range of motion were noted in patients withmelorheostosis and associated upper extremity soft tissue conditions. The soft tissue associated conditions in combination with melorheostosis appear more recalcitrant to treatment.


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