Bone Abstracts

Present a clinical case of Maffuchchi Syndrome and highlight its clinical and orthopedic features and differences from the Ollier disease Methods: Risk of secondary chondrosaroma higher at Maffuchchi syndrome – 46%. Almost 100% extraskeletal malignant transformation compared to Ollier disease which, according to various estimates, is 5–43% of all cases. Maffuchchi syndrome is a rare (‘orphan’) disease, and therefore not well known by scientists and practicing orthopedics. In world literature about 200 cases of this syndrome are described (Dyshondroplasia\multiple hondromatosis) – as a result of sporadic (post-zygote) mutations, there is an infringement of regulation, proliferation and residual differentiation of chondrocytes. As a consequence, there is a presence of abnormal “embryonic” tissue inclusions in short and long tubular bones and the pelvis. The above-mentioned areas are located in close proximity to areas of bone growth, causing deformation, shortening of the affected segments, pathological fractures, and in some cases transformation into chondrosarcoma 5–43% (low or medium malignancy degree). Thereby, clinical understanding of features and differences between Ollier disease and Maffuchchi Syndrome (with almost 100% of likelihood of cancer complications) causes necessity of careful monitoring of patients with multiple enhondromatosys, early diagnostics, timely surgical treatment and prevention of malignant complications. Significance: Early diagnostics, timely surgical treatment and prevention of malignant complications – basis for patients with Maffuchchi Syndrome.

Disclosure: The authors declared no competing interests.