Brachymetacarpia and Brachymetatarsia in Patients with Multiple Hereditary Exostosis

Multiple hereditary exostosis is a common autosomal dominant inherited musculoskeletal disorder that manifests with multiple osteochondromas. The clinical manifestations and pathological characteristics of osteochondromas found in the long bone and genetic alterations related to multiple hereditary exostosis have been widely reported. In this study, we investigated the characteristics of brachymetacarpia and brachymetatarsia associated with multiple hereditary exostosis.

Of the 133 patients with a diagnosis of multiple hereditary exostosis who were recruited from 2005 to 2018, 101 patients who underwent plain radiography after 10 years of age were included. There were 55 male (54.5%) and 46 female (45.5%) patients. Brachymetacarpia or brachymetatarsia was diagnosed when disruption of the Lièvre parabola connecting the metacarpal or metatarsal heads was observed on plain radiographs. Three orthopedic surgeons individually reviewed hand and foot plain radiographs.

Of the 101 patients, 41 patients (40.6%) had more than 1 brachymetacarpia (88 cases) or brachymetatarsia (81 cases). Among 41 cases, 22 (53.7%) were male and 19 (46.3%) were female. The mean age at the time of radiographic evaluation of the hands and feet was 14.6 years (range, 10-63 years). Shortening was most commonly found in the 3rd and 4th metacarpal or metatarsal bones.

We found a relatively high incidence of brachymetacarpia and brachymetatarsia in our patients. Physicians should suspect the presence of brachymetacarpia and brachymetatarsia when treating patients with multiple hereditary exostosis.