Patient history: A 53-year-old female admits with a history of multiple orthopedic, dermatologic, and plastic-surgical procedures. The physical exam is notable for multiple cutaneous hemangiomas.
Figure 1: Multiple lucent lesions
Figure 2: Old fracture deformities
Salient findings: The images show old fracture deformities of the left fibular shaft and proximal tibia as well as a deformity of the distal femur. The patient has had a left total knee arthroplasty. There are multiple lucent lesions involving the left second, fourth, and fifth rays, with bone deformities. Findings are consistent with multiple chondromas. There is no evidence for malignant degeneration.
Patient population and natural history of disease: Enchondromatosis is a condition of multiple benign ectopic rests of cartilage growing within intramedullary bone, forming lucent lesions and bone expansion on radiographs. The enchondromas can deform and shorten a limb and can predispose the patient to a pathologic fracture. Enchondromas account for 12%-14% of benign bone neoplasms. When associated with cutaneous and visceral hemangiomas, the condition is called Maffucci’s syndrome.
Most patients with Maffucci’s syndrome will develop malignant transformation of at least one enchondroma into a chondrosarcoma (malignant cartilage tumor). Enchondromatosis without hemangiomas is known as Ollier’s disease; about 25% of patients with Ollier’s disease will develop chondrosarcoma by age 40. Both Maffucci’s syndrome and Ollier’s disease are nonhereditary. Metachondromatosis, a condition characterized by multiple enchondromas, is an autosomal dominant condition uniquely associated with osteochondromas.
Management: The physician who evaluates a patient with Maffucci’s syndrome must have a high suspicion for pathologic fracture and malignant degeneration. All bone pain and swelling should be evaluated with plain radiographs. Bone expansion, cortical breakthrough, soft-tissue mass, and deep endosteal scalloping of the cortex are indicative of malignant transformation. These findings are unreliable in the smaller bones of the hands, however, and features of low-grade chondrosarcoma are often indistinguishable from benign enchondromas. Even in the absence of worrisome features on plain radiographs, if clinical suspicion is high, a CT scan and/or an MRI should be performed for further evaluation. Biopsy is often indicated on clinical findings, despite imaging characteristics. Hemangiomas can undergo rapid expansion and are often treated with surgery.
Take-home points:
- Enchondromas are the most common primary neoplasm of the bones in the hand and are benign;
- There is an increased risk of malignant transformation of enchondromas in patients with Ollier’s disease or Maffucci’s syndrome; and
- Biopsy of a lesion may be indicated if clinical suspicion for malignancy is high. TH
Helena Summers is a radiology resident and Erik Summers is a hospitalist at the Mayo Clinic College of Medicine in Rochester, Minn.
Bibliography
- Sun TC, Swee RG, Shives TC, et al. Chondrosarcoma in Maffucci’s syndrome. J Bone Joint Surg Am. 1985 Oct;67(8):1214-1219.
- Schwartz HS, Zimmerman NB, Simon MA, et al. The malignant potential of enchondromatosis. J Bone Joint Surg Am. 1987 Feb;69(2):269-274.
- Chew FS, Maldjian C. Enchondroma and enchondromatosis. emedicine. June 10, 2005. Available at: www.emedicine.com/radio/topic247.htm. Last accessed on March 14, 2007.