2016
DOI: 10.2106/jbjs.cc.15.00182
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Metachondromatosis without Enchondromas

Abstract: To the best of our knowledge, this is the first reported case of a patient with metachondromatosis without any enchondromatous lesions.

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Cited by 3 publications
(1 citation statement)
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“…A similar clinical finding was previously described in a case of nineyear-old boy with LoF variant in the PTPN11 gene who presented with OC-like lesions in the hands and feet with OCs in the tibiae, all without any enchondromas [44]. The overlap between the two diseases has been discussed in other studies [31,43], and the current understanding of the molecular etiology of MC is limited, as only three studies have been published on this topic [25,26,44]. We also need to consider the young age of our probands with variants in the PTPN11 gene and without ECs.…”
Section: Discussionsupporting
confidence: 83%
“…A similar clinical finding was previously described in a case of nineyear-old boy with LoF variant in the PTPN11 gene who presented with OC-like lesions in the hands and feet with OCs in the tibiae, all without any enchondromas [44]. The overlap between the two diseases has been discussed in other studies [31,43], and the current understanding of the molecular etiology of MC is limited, as only three studies have been published on this topic [25,26,44]. We also need to consider the young age of our probands with variants in the PTPN11 gene and without ECs.…”
Section: Discussionsupporting
confidence: 83%