Citation, DOI, disclosures and article data
Citation:
Gaillard F, Alhusseiny K, Jones J, et al. Metachondromatosis. Reference article, Radiopaedia.org (Accessed on 01 May 2024) https://doi.org/10.53347/rID-9776
Metachondromatosis refers to the rare combination of:
In contrast to enchondromatosis alone, metachondromatosis carries an autosomal dominant inheritance.
In contrast to osteochondromatosis, the lesions are directed towards the epiphysis 6,7.
Characterized by the presence of both enchondromas and osteochondromas. The enchondromas can have a peculiar streak-like appearance 2.
Treatment and prognosis
With this condition, the cartilaginous lesions rarely undergo malignant transformation and spontaneous regression is usually expected. In asymptomatic and uncomplicated cases, no treatment is usually required.
History and etymology
First described by P Marotaeux et al. in 1971 2,3.
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3. Maroteaux P. [Metachondromatosis] Z Kinderheilkd. 1971;109 (3): 246-61. - Pubmed citation
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4. Wittram C, Carty H. Metachondromatosis. Pediatr Radiol. 1995;25 Suppl 1 : S138-9. - Pubmed citation
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5. Bassett GS, Cowell HR. Metachondromatosis. Report of four cases. J Bone Joint Surg Am. 1985;67 (5): 811-4. - Pubmed citation
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6. Fisher T, Williams N, Morris L, Cundy P. Metachondromatosis: More Than Just Multiple Osteochondromas. J Child Orthop. 2013;7(6):455-64. doi:10.1007/s11832-013-0526-3 - Pubmed
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7. Wang Z, Zou Y, Chen Y, Chen Y. Multiple Unexpected Lesions of Metachondromatosis Detected by Technetium-99m Methylene Diphosphonate SPECT/CT: A Case Report. Medicine (Baltimore). 2018;97(17):e0512. doi:10.1097/MD.0000000000010512 - Pubmed
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