Hereditary multiple exostoses
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At the time the case was submitted for publication Pir Abdul Ahad Aziz Qureshi had no recorded disclosures.View Pir Abdul Ahad Aziz Qureshi's current disclosures
Pain in left lower leg
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Multiple exostoses are seen arising from the tibia, fibula, and femur.
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.