Brachymetacarpia and Brachymetatarsia in Patients with Multiple Hereditary Exostosis

Abstract

Multiple hereditary exostosis (MHE) is a common autosomal dominant inherited musculoskeletal disorder that manifests with multiple osteochondromas and cartilagecapped bony outgrowths at the growth plates. The femur, tibia, and fibula are most commonly affected, but the humerus, radius, ulna, ribs, scapula, and pelvis are also involved. 1,2) The number and location of lesions, the degree of orthopedic deformities, and functional impairment vary widely among patients. Approximately 40% of individuals with shortened and/or bowed legs have mild short stature as a result of the deformities. 3) We reviewed the literature to identify various physical conditions accompanying MHE and difficulties associated with multiple osteochondromas. Patients with MHE have occasional deformation of the hands and feet, but functional impairment is not severe. There are few reports on the characteristics of the hand or foot of MHE patients. Patients with MHE have hand and foot involvement, but rarely show obvious and specific deformities. The principal area of involvement in the hand appears to be around the metacarpophalangeal joint. Metacarpal shortening usually does not cause functional problems, whereas angular deformity does cause problems and needs surgical treatment. 4) Unfortunately, there is no evidence that prevention of deformity is possible by early excision