대한흉부영상의학회 Korean Society of Thoracic Radiology

Discussion

Diagnosis With Brief Discussion

Diagnosis

Maffucci syndrome

Radiologic Findings

Fig 1. Simple chest radiograph shows multiple lobulated contoured osteolytic lesions with stippled calcification and endosteal scalloping in the ribs. The well demarcated osteolytic lesion with expansile remodeling and cortical thinning in the right scapula is also seen. There is no abnormal finding in the lung.
Fig 2-3. Chest CT scans show multiple lobulated contoured lesion with stippled calcification in the ribs and the well demarcated osteolytic lesion with expansile remodeling in the right scapula.
Fig 4. Plain radiograph of right hand shows multiple calcifications in right thumb suggesting phleboliths that are typical of cavernous hemangiomas.

Brief Review

The enchondroma is a tumor that develops in the medullary cavity and is composed of lobules of hyaline cartilage. Typical sites of involvement are the humerus, femur, and tibia. Rare areas of skeletal localization are the skull, facial bones, patella. clavicle, sternum, scapula, ulna and vertebrae. The enchondromas in the ribs may lead to osseous expansion, designated as enchondroma protuberans, that simulates the appearance of an osteochondroma, or to massive enlargement of the bone. The radiographic appearance of enchondromas is usually characteristic. A well-defined, medullary lesion with some degree of calcification, a lobulated contour, and endosteal erosion allow precise diagnosis in most cases. Cortical expansion or thickening and pathologic fracture are other potential radiographic characteristics.
Chondroid lesions of the ribs are always seen at or near the anterior end of the rib. Therefore, lesions at the costochondral junction, especially if calcified, are suggestive of a chondroid origin. Enchondroma, which cause focal expansion of the rib, may be seen and may be diagnosed if typical chondroid calcification-“rings and arcs” pattern-can be demonstrated.
Enchondromatosis(Ollier’s disease) is rare and nonhereditary, consisting of multiple, asymmetrically distributed intraosseous cartilaginous foci and subperiosteal deposition of cartilage, either exclusively or predominantly involving one side of the body; the affected bones are often shortened and deformed.
Maffucci’s syndrome represents a rare, congenital, nonhereditary mesodermal dysplasia manifested by multiple enchondromas and soft tissue hemangiomas. It causes varying degrees of disability, but malignant transformation in the cartilage is the most severe complication, occurring with a frequency of approximately 20 percent. Radiographs are often pathognomonic in Maffucci syndrome. The radiolucent skeletal lesions are well demarcated and show expansile remodeling of the affected bone with predominant thinning of the cortex and endosteal scalloping. Matrix mineralization in the osseous lesions is frequent and shows the typical arc-and-ring appearance of chondroid lesions. Deformities of the extremities may be caused by interrupted skeletal growth during development. In the soft tissues, phleboliths?which are typical of cavernous hemangiomas?and soft-tissue calcifications may be seen. The potential for both bone and soft tissue lesions to undergo sarcomatous transformation in this syndrome has been emphasized, although the risk is greater for the skeletal component. Chondrosarcoma is the dominant malignant tumor encountered, although other neoplasms of of the soft tissue, such as hemangiosarcoma, lymphangiosarcoma, and fibrosarcoma are reported.
In this patient, right hand soft tissue excision was performed. The pathologic diagnosis was cavernous hemangioma. Considering these radiologic and pathologic findings, the final diagnosis is Maffucci syndrome.

References

1. Resnick D, Kyriakos M, Greenway GD. Tumors and tumor-like lesions of bone: imaging and pathology of specofoc lesions. In Resnick D, Manke D. Diagnosis of bone and joint disorders, 2nd ed. W.B. Saunders Company, Philadelphia; 1988, p3679-3688.

2. Zwenneke Flach H, Ginai AZ, Wolter Oosterhuis J. Best Cases from the AFIP: Maffucci syndrome: radiologic and pathologic findings. Armed Forces Institutes of Pathology. RadioGraphics 2001;21:1311-1316.

3. Guttentag AR, Salwen JK. Keep your eyes on the ribs: the spectrum of normal variants and diseases that involve the ribs. RadioGraphics 1999;19:1125-1142

Keywords

Multiple organs, Congenital, Benign tumor,