Presentation
Pain in left lower leg
Patient Data
Age: 25 years
Gender: Female
From the case:
Hereditary multiple exostoses
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Multiple exostoses are seen arising from the tibia, fibula, and femur.
Case Discussion
Hereditary multiple exostoses/osteochondromas, also known as diaphyseal aclasis and osteochondromatosis, is an autosomal dominant condition characterized by the development of multiple osteochondromas.
According to the WHO classification of soft tissue and bone tumors (5th edition), the diagnostic criteria are ≥2 radiological osteochondromas at the juxtaepiphyseal region of the long bones and positive family history and/or EXT gene germline mutation.
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