Maffucci syndrome

Maffucci syndrome
ICD-10	Q78.4
ICD-9	756.4
DiseasesDB	9212
MeSH	D004687

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Mafucci syndrome is presented by multiple enchondromas, which are also associated with multiple cavernous soft tissue hemangiomas. Patients are normal at birth and the syndrome manifests during childhood and puberty. Common pathological fractures can arise in metaphyses and diaphses of the long bones. Patients with this disease show no lack of intelligence.

Historical Perspective

It is named for Angelo Maffucci.

Diagnosis

The imaging findings are

• Radiographs, particularly of the hands and feet, 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.

Right femoral enchondroma is a patient with Maffucci syndrome. Please note the Throckmorton's sign

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