Regarding the following X-Ray:
Where is the lesion?
Metaphysis of the base of the fourth middle phalanx.
What are the radiological characteristics/findings?
Expansile lytic lesion (bubbly appearance) with narrow zone of transition, no cortical break through, and no soft-tissue component.
What is the differential diagnosis?
Enchondroma: Enchondromas have variable imaging appearances but are typically lytic lesions with non-aggressive features. They could show chondroid calcifications (rings and arcs calcification). But in the hands and feet they are typically purely lytic with no matrix.
Eosinophilic granuloma: It mainly involves the diaphysis and does not cross the growth plates. It appears as punched out lytic lesions without sclerotic rim. Imaging appearance in the long bones depends on the phase of the disease which is imaged. It can look aggressive in the initial phase. In the healing phase it can show solid benign periosteal reaction.
Fibrous dysplasia.Usually shows ground-glass matrix but may be completely lucent or sclerotic. Well-circumscribed lesions with no periosteal reaction may lead to premature fusion of growth plates leading to short stature in the lower limbs and bowing deformities (Shepherd’s Crook deformity of the femoral neck)
What is the most likely diagnosis?
Diagnosis: Enchondroma
Regarding the diagnosis…
What are the associated syndromes with multiple enchondromas?
Ollier disease: multiple enchondromas are usually confined to one side of the body and limited to the limbs. There is increased risk of chondrosarcoma
Maffucci syndrome: multiple enchondromas with soft-tissue haemangiomas
