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Hereditary multiple exostoses

Case contributed by Pir Abdul Ahad Aziz Qureshi
Diagnosis certain


Pain in left lower leg

Patient Data

Age: 25 years
Gender: Female

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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