Evaluation of the forearm in untreated adult subjects with multiple hereditary osteochondromatosis.

BACKGROUND: Limb-length discrepancy or angular deformities as a result of altered bone growth may lead to a decreased range of motion and impaired function as well as premature osteoarthritis in patients with multiple hereditary osteochondromatosis. The purpose of this study was to describe the function of the forearm in untreated patients in order to facilitate comparison with studies of the results of treatment of this condition. METHODS: The medical records of fifty-one pediatric patients were identified and served as the basis for identifying a cohort of adult relatives with the disorder. Participants were asked about pain and limitations in vocational or recreational activities and about concerns with regard to cosmetic appearance. Radiographs of the forearm and wrist were made to quantify the deformity. Functional outcome was assessed on the basis of a comparison with the norms for grip and pinch strength and for scores on the hand function test of Jebsen et al. Limitations in the range of motion of the upper extremities were converted to standard impairment ratings. RESULTS: Participants included twenty-two men and seventeen women with an average age of forty-two years (range, twenty to eighty years). Most of the patients were employed in careers of their choice, with only five (13%) indicating that they were limited in any way in the performance of their jobs. Twenty-six subjects (67%) participated in recreational activities, and sixty-eight arms (88%) were reported to be free of pain. Objective measurement of function demonstrated greater disability than that found from subjective reporting. Fourteen arms had an impairment rating of >10%, while twenty had decreased pinch strength and sixteen had decreased grip strength. Ten arms (13%) had decreased hand function according to the hand test of Jebsen et al. Radiographic evaluation demonstrated osteoarthritic changes in three limbs. CONCLUSIONS: Affected individuals had definite decreases in hand and wrist function, yet these did not result in major increases in pain or in limitations in daily work and recreation. This cohort provides a basis for comparison with the results of operative treatment in affected individuals with multiple hereditary osteochondromatosis.

Natural history of multiple hereditary osteochondromatosis of the lower extremity and ankle.

In this study the authors evaluated the natural history of the ankle joint in patients with multiple hereditary osteochondromatosis. Thirty-eight subjects with an average age of 42 years completed a detailed subjective questionnaire and underwent clinical and radiographic evaluation of their ankles. Three subjects (8%) indicated their ankle involvement affected their vocation, and 12 (32%) were limited in recreational sports. Seven patients (18%) had pain in at least one ankle on a weekly basis, with an average ankle pain score of 2.2. Ankle range of motion averaged 50 degrees and subtalar motion was considered normal in two thirds of ankles. Radiographic evaluation documented an average tibiotalar tilt of 9 degrees of ankle valgus, with evidence of degenerative joint disease noted in 14 ankles (19%). Those with arthritic changes had significantly more tibiotalar tilt and diminished ankle range of motion compared with those without radiographic signs of osteoarthritis. These findings document measurable decreases in ankle function and suggest that correction or prevention of excessive tibiotalar tilt may be warranted to improve outcome.