Case of the Month


History: 15 year-old girl with enlarged third, fourth, and fifth fingers of her left hand

1. AP radiograph of the left hand shows well-defined, expansile, lucent, scalloped lesions in the shaft of the third metacarpal and in the third proximal and middle phalanges. In addition, transverse lucent bands are noted in the proximal ends of the fourth and fifth proximal and middle phalanges and in the distal ends of the third, fourth, and fifth metacarpals. Although the bone is not expanded in these areas, these represent additional cartilagenous rests.

2. Lateral radiograph of the left third finger shows well-defined, expansile, lucent, scalloped lesions in the third proximal and middle phalanges.

3. Radionuclide bone, posterior view of the hands, shows markedly increase uptake in the lesions in the third metacarpal and the third proximal and middle phalanges. There is also multiple other areas of increased activity in in the fourth and fifth metacarpals and phalanges representing additional cartilagenous rests

   


Supplemental Information:
Multiple well-defined, expansile, lucent, scalloped lesions, with an appearance typical of enchondromas, are present in the shaft of the third metacarpal and in the third proximal and middle phalanges. Transverse lucent bands in the proximal ends of the fourth and fifth proximal and middle pahlanges and in the distal ends of the third, fourth, and fifth metacarpals represent additional cartilagenous rests, although there is no expansion of the bone in these areas. Note that these same areas show increased uptake on the bone scan. The unilateral involvement limited to the three fingers on the ulnar side of the had is typical of Ollier disease (enchondromatosis). Whole body bone scan shows no additional lesions. No phleboliths are present in the soft tissues.

Discussion:

Enchondroma and Enchondromatosis (Ollier Disease)
Enchondroma is a benign, cartilaginous neoplasm that arises in enchondral bone from ectopic hyaline cartilage rests derived from the adjacent growth plates. Enchondromas are usually solitary and occur most commonly in the small tubular bones of the hands and feet and in the metaphyses and metadiaphyses of long bones. Radiographically, enchondroma appears as a well-circumscribed, round or ovoid, lucent, expansile, "bubbly" lesion with sclerotic margins and endosteal scalloping. Punctate or stippled calcifications in the cartilaginous matrix can be visible on radiographs, but are more uniformly visualized at CT. Enchondroma is a non-aggressive neoplasm radiographically and periosteal reaction is typically absent, except when there is associated fracture. At MRI, the cartilaginous matrix is isointense to muscle on T1 with heterogeneously high signal on T2. Enhancement is variable, with some lesions enhancing homogeneously, others only peripherally. On radionuclide bone scan enchondromas characteristically show markedly increased uptake. The risk of malignant transformation is very small in solitary enchondroma, although the lesions can produce deformity and pain and pathologic fractures can occur. Surgical curettage is usually indicated for solitary enchondroma. Ollier disease (enchondromatosis) is a rare, non hereditary, sporadic disorder in which multiple enchondromas develop during childhood. The estimated prevalence of Ollier disease is 1/100,000. The size, number and location of the lesions are variable. The distribution of the enchondromas in Ollier disease is usually decidedly asymmetric and can be unilateral. Although some patients do have bilateral involvement, one side is almost always more affected. Common clinical manifestations include palpable bony masses of the fingers or toes, angular deformity and shortening of an extremity with limping, or other osseous deformities associated with or without pathologic fractures. They frequently affect the tibia, fibula, and femur, but may also affect the pelvis. There is a slight risk of a secondary chondrosarcoma developing in adulthood. When hemangiomas are also present, it is referred to as Maffucci syndrome.
The diagnosis of Ollier disease is based on clinical and conventional radiological evaluations. Radiographs typically show multiple oval shaped, radiolucent, homogenous lesions that run parallel with the long bone axis. The enchondromas form in clusters and can coalesce resulting in significant skeletal deformity. Disturbance in longitudinal growth of affected bones is common and the affected bones can be foreshortened and bowed. At the wrist, negative ulnar variance is common, as is shortening of the fourth metacarpal. Calcification of the cartilaginous matrix in the lesions increases with time. Malignant degeneration has been reported in up to 25% of adults with Ollier disease. Signs of malignant transformation include cortical erosion, extension of the tumor into soft tissues, and irregularity of the surface of the tumor. Enchondromas are usually well circumscribed, while chondrosarcoma has more irregular borders. The appearance of new lucency within an enchondroma is suspicious for chondrosarcoma. Magnetic resonance imaging (MRI) is usually not needed for establishing the diagnosis of Ollier disease, but may be indicated for evaluation of painful lesions. Biopsy is usually necessary for confirmation if malignancy is suspected. There is no medical treatment for enchondromatosis. Surgical intervention is may be indicated for treatment of secondary deformities and complications, such as fracture.



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