Enchondromatosis

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Enchondromatosis
Other names: Chondrodysplasia, skeletal enchondromatosis[1]
Enchondromatosis (Radiopaedia 23535).jpg
Enchondromatosis in fingers
SpecialtyOrthopaedics[1]
SymptomsBone deformity, lump, broken bone[2]
TypesOllier disease, Maffucci syndrome,metachondromatosis[3]
Diagnostic methodMedical imaging.[1]
Prognosis40% risk of chondrosarcoma, increased risk of non-bone cancers[1]
FrequencyRare[3]

Enchondromatosis is the presence of multiple enchondromas, occurring as part of Ollier disease, Maffucci syndrome, or metachondromatosis.[3] It has a tendency to affect short tubular bones of the hands and feet, but can occur in long bones, shoulder blades and hips.[3] It presents with bone deformity, lumps, or broken bone, typically in a child.[2]

Diagnosis is by medical imaging.[1]

Enchondromatosis is rare.[3] 40% develop chondrosarcoma, and there is an increased risk of non-bone cancers such as gliomas and mesenchymal ovarian tumours.[1]

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References

  1. 1.0 1.1 1.2 1.3 1.4 1.5 Na, Kiyong; Park, Yong Koo (2020). "Multiple Enchondromatosis". In Santini-Araujo, Eduardo; Kalil, Ricardo K.; Bertoni, Franco; h, i (eds.). Tumors and Tumor-Like Lesions of Bone (2nd ed.). Switzerland: Springer Nature. pp. 257–259. ISBN 978-3-030-28314-8.
  2. 2.0 2.1 Sharif, Ban; Lindsay, Daniel; Saifuddin, Asif (24 July 2021). "Update on the imaging features of the enchondromatosis syndromes". Skeletal Radiology. doi:10.1007/s00256-021-03870-0. ISSN 1432-2161. PMID 34302201.
  3. 3.0 3.1 3.2 3.3 3.4 Suster, David; Hung, Yin Pun; Nielsen, G. Petur (1 January 2020). "Differential Diagnosis of Cartilaginous Lesions of Bone". Archives of Pathology & Laboratory Medicine. 144 (1): 71–82. doi:10.5858/arpa.2019-0441-RA. ISSN 0003-9985.

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