Summary
Description
Mafucci syndrome is a rare disease where multiple enchondromas are associated with multiple hemangiomas.
People and Age
This is a congenital, nonhereditary disease that is apparent from early childhood. Lesions may appear isolated at first and then become more widespread.
Symptoms and Presentation
The disease may be localized or widespread. Most patients present with pain.
Brief description of the xray
Multiple enchondromas in adjacent bones with phleboliths in the soft tissues, indicating the presence of hemangiomas.
Complete Information on this Tumor
Introduction and Definition
Mafucci syndrome is a rare disease where multiple enchondromas are associated with multiple hemangiomas.
Incidence and Demographics
This is a congenital, nonhereditary disease that is apparent from early childhood. Lesions may appear isolated at first and then become more widespread.
Symptoms and Presentation
The disease may be localized or widespread. Most patients present with pain. Other tumors may occur. The number of patients who develop sarcomas varies according to the reports. Patients with extensive lesions have a higher risk. About 15% develop chondrosarcoma, and one-third have other sarcomas, including vascular and fibrous sarcomas. The rate of chondrosarcoma is lower than see in Ollier disease. Other benign and malignant tumors may occur, including pituitary adenoma, glioma, uterine fibroids and polyps, mesenchymal ovarian tumors, adrenal cortical adenoma, fibrosarcoma, and carcinoma of the pancreas.
X-Ray Appearance and Advanced Imaging Findings
Multiple enchondromas in adjacent bones with phleboliths in the soft tissues, indicating the presence of hemangiomas. The affected soft tissues are enlarged and swollen due to the multiple hemangiomas. The hemangiomas may undergo sarcomatous degeneration. The involved bones are deformed, shortened, and the metaphyseal areas are widened by the tumors. Longitudianl lines appear in the metaphyseal areas of long bones that are called "sled runner tracks". When the enchondromas become sarcomatous, they tumors begin to exhibit more aggressive behavior, breaking out of the bone and forming extraosseaous tumor masses, as shown in the images.
Differential Diagnosis
Ollier's Disease (multiple enchondromas), multiple epiphyseal dysplasia,
Histopathology findings
See Ollier's disease (ollier's syndrome). The cartilage lesions are very cellular, and may have large number of binucleated or atypical chondrocytes. The cellular atypia is far greater than see in enchondroma. Differentiation from sarcoma is difficult. Risk of sarcoma is high, from 25 to 100%. Chondrosarcoma and angiosarcoma are the principal risks.
Treatment Options for this Tumor
Symptomatic lesions are excised. Sarcomas are treated in accordance with general treatment principles for the sarcoma.
Outcomes of Treatment and Prognosis
The number of patients who develop sarcomas varies according to the reports. Patients with extensive lesions have a higher risk. About 15% develop chondrosarcoma, and one-third have other sarcomas, including vascular and fibrous sarcomas. The rate of chondrosarcoma is lower than see in Ollier disease. Other benign and malignant tumors may occur, including pituitary adenoma, glioma, uterine fibroids and polyps, mesenchymal ovarian tumors, adrenal cortical adenoma, fibrosarcoma, and carcinoma of the pancreas.
