SOLITARY AND MULTIPLE ENCHONDROMAS (OLLIER DISEASE): RARE SKELETAL DISORDERS CAUSING SEVERE BONE DESTRUCTION AND PSYCHO-EMOTIONAL DISTRESS
DOI:
https://doi.org/10.22551/Abstract
Solitary enchondromas represent benign cartilaginous neoplasms originating from residual chondrocytes of the physeal plate. Ollier disease (multiple enchondromatosis) is a rare, non-hereditary skeletal disorder characterized by multiple intramedullary cartilaginous tumors (enchondromas) carry a risk of malignant transformation into chondrosarcoma or atypical cartilaginous tumor (ACT). Both diseases are rare, initially asymptomatic and curative treatment is non-existent. Materials and methods: The study included a cohort of 14 patients diagnosed with solitary or multiple asymptomatic enchondromas, classified according to the Takigawa classification. in all cases the diagnosis was established by imaging examination. All patients underwent surgical treatment. The surgical techniques employed consisted of tumor curettage followed by reconstruction of the resulting bone defect using either autologous bone graft or solid bone substitute. In one case, where the enchondromas were multiple and large, with massive digital bone destruction, a necessary amputation was performed. Results: Imaging examinations revealed extensive lytic lesions affecting the metacarpals and phalanges in all cases. In the patient with Ollier disease, lesions were also identified in the radius, humerus, scapula, and vomer bone-an exceptional localization. Histopathological analysis confirmed a central atypical cartilaginous tumor (ACT) arising secondarily from an enchondroma in the case of multiple enchondromatosis. The patient with Ollier disease was also diagnosed with psychiatric comorbidities, including anxiety and depression, related to chronic hospitalization and physical deformity. Functional and aesthetic outcomes were evaluated in all cases using the DASH, ROM, and VAS scores. Conclusions: The presence of enchondromas is rare, and multiple enchondromatosis-particularly when associated with cranial involvement-represents an extremely uncommon entity. The absence of symptoms often leads to incidental diagnosis. In Ollier disease, onset occurs in early childhood, and the resulting deformities can cause significant psychological and emotional trauma, in addition to the orthopedic and functional burden associated with the disease.
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