GOOD NEWS: We have fixed the DICOM uploading problem. New cases should work fine. More info radiopaedia.org/chat

Hereditary multiple exostoses

Case contributed by Pir Abdul Ahad Aziz Qureshi
Diagnosis certain

Presentation

Pain in left lower leg

Patient Data

Age: 25 years
Gender: Female
x-ray

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.

How to use cases

You can use Radiopaedia cases in a variety of ways to help you learn and teach.

Creating your own cases is easy.

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.