114 Multiple Hereditary Exostoses

Clinical Presentation

A young child presents with multiple bilateral painless, hard lumps adjacent to several joints. He also has mild limitation of wrist and elbow motion.

Figure 114A

Figure 114B

Figure 114C

Figure 114D

Figure 114E

Radiologic Findings

The tubular bone and modeling deformities shown in Figs. 114A to 114E demonstrate metaphyseal broadening from multiple exostoses. Associated deformities of adjacent joints are present, including the distal radioulnar and radiocarpal joints. Note the variable appearance of the exostoses affecting the proximal humeri, femora, and ribs.

Figure 114F Frontal radiograph of the knee of a patient with Trevor disease showing enlargement of the distal femoral and proximal tibial epiphyses medially with irregularity in ossification.

Figure 114G Hand radiograph of a patient with Ollier disease showing multiple enchondromatosis with expansion of the medullary space especially involving the left third metacarpal.

Figure 114H Radiographs of hip and femur (1), lower limbs (2), and right hand (3) of a patient with Langer-Giedion syndrome. Note the multiple exostoses of the right femur and fibula especially.

Diagnosis

Multiple hereditary exostoses (MHE) (osteochondromatosis, diaphyseal aclasis)

Differential Diagnosis

Dysplasia epiphysealis hemimelica (Trevor disease) (Fig. 114F)
Ollier disease (enchondromatosis) (Fig. 114G)
Trichorhinophalangeal syndrome, type 2 (Langer-Giedion syndrome) (Figs. 114H1 to 114H3)
Sporadic, isolated osteochondromata (exostoses) (Figs. 114I1 and 114I2)
Metachondromatosis