Hereditary multiple exostoses
Updates to Article Attributes
Hereditary multiple exostoses (also known as diaphyseal aclasis), is an autosomal dominant condition, characterised by development of multiple osteochondromas.
Epidemiology
Hereditary multiple exostoses demonstrates an autosomal dominant inheritance pattern, with incomplete penetrance in females. The number of exostoses, the degree and type of angular deformity, and even the rate of malignant transformation vary significantly, even within families.
Clinical presentation
Most patients are diagnosed by age 5 years, and virtually all are diagnosed by age 12 years. Patients may be asymptomatic with a few small lesions or may be significantly deformed by multiple large osteochondromas.
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.
Complications
Are also similar or those of solitary osteochondroma and include
- vascular impingement
- neural impingement
- fracture
- bursitis
- deformity
- 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 generic osteochondroma article for more information.
See also
-</ul><p>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) <sup>3</sup>. The mnemonic <a title="Mnemonic GLAD PAST" href="/articles/mnemonic-glad-past">GLAD PAST</a> <sup>1 </sup>lists the associations with sarcomatous transformation.</p><p><span style="line-height:1.6">Refer to generic </span><a style="line-height: 1.6;" href="/articles/osteochondroma">osteochondroma</a><span style="line-height:1.6"> article for more information.</span></p><h4>See also</h4><ul><li><a href="/articles/exostosis">exostosis</a></li></ul>- +</ul><p>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) <sup>3</sup>. The mnemonic <a href="/articles/osteochondroma-malignant-transformation-mnemonic">GLAD PAST</a> <sup>1 </sup>lists the associations with sarcomatous transformation.</p><p>Refer to generic <a href="/articles/osteochondroma">osteochondroma</a> article for more information.</p><h4>See also</h4><ul><li><a href="/articles/exostosis">exostosis</a></li></ul>
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