diaphyseal aclasis

Multiple
kartilaginäre Exostosen bei einem gut 50 jährigen Mann. Röntgenbild a.p. und seitlich vom rechten Unterschenkel.
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multiple
osteochondromas at the pelvis
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Multiple
kartilaginäre Exostosen bei einem gut 50 jährigen Mann. Röntgenbild a.p. vom rechten Knie.
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Kartilaginäre
Exostosen an Femur, Tibia und Fibula. Synostose zwischen Tibia und Fibula. Röntgenbild seitlich
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Kartilaginäre
Exostosen an Femur, Tibia und Fibula. Synostose zwischen Tibia und Fibula. Röntgenbild ap.
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Hereditary
multiple exostoses • Multiple hereditary exostoses - knee joint - Ganzer Fall bei Radiopaedia
Rasuli B, Multiple hereditary exostoses - knee joint. Case study, Radiopaedia.org (Accessed on 28 Nov 2022) https://doi.org/10.53347/rID-153484 • CC by-nc-sa 3.0 (modified)
Radiograph of
MO
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Hereditary
multiple exostoses • Multiple hereditary exostoses (osteochondromatosis) - Ganzer Fall bei Radiopaedia
Cuete D, Multiple hereditary exostoses (osteochondromatosis). Case study, Radiopaedia.org (Accessed on 28 Nov 2022) https://doi.org/10.53347/rID-24820 • CC by-nc-sa 3.0 (modified)
Hereditary
multiple exostoses • Diaphyseal aclasis and tibial plateau fracture - Ganzer Fall bei Radiopaedia
Babu V, Diaphyseal aclasis and tibial plateau fracture. Case study, Radiopaedia.org (Accessed on 28 Nov 2022) https://doi.org/10.53347/rID-52902 • CC by-nc-sa 3.0 (modified)
Hereditary
multiple exostoses • Hereditary multiple exostoses (bilateral knee) - Ganzer Fall bei Radiopaedia
El Deen M, Hereditary multiple exostoses (bilateral knee). Case study, Radiopaedia.org (Accessed on 28 Nov 2022) https://doi.org/10.53347/rID-39301 • CC by-nc-sa 3.0 (modified)
Hereditary
multiple exostoses • Hereditary multiple exostoses with malignant transformation - Ganzer Fall bei Radiopaedia
Skalski M, Hereditary multiple exostoses with malignant transformation. Case study, Radiopaedia.org (Accessed on 28 Nov 2022) https://doi.org/10.53347/rID-26801 • CC by-nc-sa 3.0 (modified)
Hereditary
multiple exostoses • Hereditary multiple exostoses (diaphyseal aclasis) - Ganzer Fall bei Radiopaedia
Alghamdi M, Hereditary multiple exostoses (diaphyseal aclasis). Case study, Radiopaedia.org (Accessed on 28 Nov 2022) https://doi.org/10.53347/rID-17137 • CC by-nc-sa 3.0 (modified)
Hereditary
multiple exostoses • Multiple hereditary exostoses (osteochondromatosis) - Ganzer Fall bei Radiopaedia
Camatsos J, Multiple hereditary exostoses (osteochondromatosis). Case study, Radiopaedia.org (Accessed on 28 Nov 2022) https://doi.org/10.53347/rID-16478 • CC by-nc-sa 3.0 (modified)
Hereditary
multiple exostoses • Hereditary multiple exostoses - diaphyseal aclasis - Ganzer Fall bei Radiopaedia
Salam H, Hereditary multiple exostoses - diaphyseal aclasis. Case study, Radiopaedia.org (Accessed on 28 Nov 2022) https://doi.org/10.53347/rID-15714 • CC by-nc-sa 3.0 (modified)
X-ray of an
osteochondroma of the tibia.
Wikipedia • CC BY-SA 3.0
Hereditary
multiple exostoses • Hereditary multiple exostoses with Madelung deformity and ulnar distraction osteogenesis - Ganzer Fall bei Radiopaedia
Skalski M, Hereditary multiple exostoses with Madelung deformity and ulnar distraction osteogenesis. Case study, Radiopaedia.org (Accessed on 28 Nov 2022) https://doi.org/10.53347/rID-41862 • CC by-nc-sa 3.0 (modified)
Radiopaedia • CC-by-nc-sa 3.0 • de

Hereditary multiple exostoses, also known as diaphyseal aclasis or osteochondromatosis is an autosomal dominant condition, characterized by the development of multiple osteochondromas.

Epidemiology

Hereditary multiple exostoses demonstrate 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 varies significantly, even within families.

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.

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.

Complications

Are also similar or those of solitary osteochondroma and include:

  • vascular impingement
  • neural impingement
  • fracture
  • bursitis
  • 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) . The mnemonic GLAD PAST lists the associations with sarcomatous transformation.

Refer to the generic osteochondroma article for more information.

See also

Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu Multiple kartilaginäre Exostosen:
Exostose
 
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kartilaginäre
Exostose
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Foramina
parietalia permagna
pediatricimaging.org • CC-by-nc-sa 4.0
Impingement
Syndrome bei Patienten mit multiplen kartilaginären Exostosen
bmcmusculoskeletdisord.biomedcentral.com • CC-by-4.0