Hereditary multiple exostoses/osteochondromas, also known as diaphyseal aclasis, osteochondromatosis, or simply multiple osteochondromas, is an autosomal dominant condition, characterized by the development of multiple osteochondromas.
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Epidemiology
Hereditary multiple exostoses demonstrate an autosomal dominant inheritance pattern, with incomplete penetrance in females leading to a slightly male predominance. Prevalence is estimated at 1 in 50,000 people 6. The number of exostoses, the degree, and type of angular deformity, and even the rate of malignant transformation vary significantly, even within families.
In rare circumstances, hereditary multiple exostoses occurs together with enchondromatosis in a condition known as metachondromatosis.
Diagnosis
Diagnostic criteria according to the WHO classification of soft tissue and bone tumors (5th edition) 6:
essential: ≥2 radiological osteochondromas at the juxtaepiphyseal region of the long bones and positive family history and/or EXT gene germline mutation
Clinical presentation
Most patients are diagnosed by the age of 5 years, and virtually all are diagnosed by the age of 12 years. Patients may be asymptomatic with a few small lesions or may be significantly deformed by multiple large osteochondromas.
Pathology
Location
Hereditary multiple exostoses can involve any bony in the body except for the calvarium 5. Common sites of involvement include the distal femur, proximal tibia, wrist and hands, humerus, ankle, pelvis, and ribs.
Genetics
Hereditary multiple exostoses is thought to result from EXT1, EXT2, or EXT3 gene mutations on chromosomes 8q24 (EXT1), 11p11-13 (EXT2), and 19p (EXT3) 4,5.
Radiographic features
Except that they are multiple, imaging features are identical to solitary osteochondromas. The skeletal distribution of lesions can significantly vary, with some authors noting that the typical distribution is bilateral and symmetric, whereas others report a strong unilateral predominance.
Often associated with a broadened shaft at the end of long bones, hence the term diaphyseal aclasis.
Treatment and prognosis
Complications
Complications are similar to those of solitary osteochondroma and include:
vascular impingement
neural impingement
fracture
deformity and ankylosis
malignant transformation
Malignant transformation is more common than in sporadic cases, with transformation rates reported as high as 25% (lower rates of 3-5% have also been published) 3. The mnemonic GLAD PAST 1 lists the associations with sarcomatous transformation.
Refer to the generic osteochondroma article for more information.
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