122 Ollier Disease

Clinical Presentation

A 14-year-old boy presents with marked enlargement of the left fourth proximal and middle phalanges, left fifth middle phalanx, and ulnar aspect of the left hand.

Figure 122A

Radiologic Findings

Hand radiograph (Fig. 122A) shows dramatic intramedullary expansion of the left fourth proximal and middle phalanges, as well as the distal aspect of the left fifth metacarpal. Similar, but less dramatic, foci of intramedullary expansion, with endosteal scalloping, involve the left first through fourth metacarpals, the left second and fifth middle phalanges, and the left fourth distal phalanx. In addition, the distal ulna is tapered and hypoplastic, with resultant ulnarization of the carpus (pseudo-Madelung deformity). Affected bones demonstrate an internal “ground-glass” matrix with endosteal scalloping and occasional punctate calcifications, without evidence of an extra-osseous soft tissue mass or sclerotic rim.

Diagnosis

Ollier disease (multiple enchondromas)

Differential Diagnosis

Maffucci syndrome
Multiple hereditary exostoses
Klippel-Trénaunay-Weber syndrome
Fibrous dysplasia
Proteus syndrome
Neurofibromatosis
Macrodystrophia lipomatosa
Primary bone cysts, including aneurysmal and unicameral bone cysts

Discussion

Background

Many conditions are associated with focal or diffuse osseous bowing and intraosseous expansile lesions. Patients with Ollier disease, or multiple enchondromas, first described in 1899, present with painless enlargement and deformity of short bones and long bones during childhood. This process is most commonly unilateral; when bilateral, it is usually asymmetrical. Affected long bones are often shortened, whereas affected short tubular bones may be grotesquely expanded and occasionally lengthened. This process is limited to the metaphyses and diaphyses.

This is a rare and sporadic entity. As is now recognized, ~20 to 50% of patients will develop malignant dedifferentiation of an intra-osseous lesion over the course of their lifetime; resultant tumors are usually chondrosarcomas. Astrocytomas of the central nervous system may develop in some patients.

Patients with Maffucci syndrome demonstrate numerous enchondromas as well as cutaneous and subcutaneous hemangiomas. These patients are also at high risk for osseous and CNS malignancies. Patients with neurofibromatosis may have focal bony expansion, but more commonly they demonstrate narrowing, elongation, and pseudoarthroses of affected long bones. Patients with multiple hereditary exostoses have exophytic expansile lesions; involvement of the distal radius and ulna may also characteristically produce the pseudo-Madelung deformity (Fig. 122B).

Etiology

Some patients demonstrate a mutation in PPR, the receptor for parathormone/parathormone-related peptide. This peptide is involved in maintaining chondrocytes in a nonhypertrophic proliferative state.

Pathology/Histology

The macroscopic features of Ollier syndrome include islands of benign resting cartilage within metaphyses and diaphyses, which subsequently proliferate. Microscopically, calcifications, ranging from punctate to “popcorn” in appearance may develop within the cartilaginous matrix.