Heather Borders, MD
over 7 years ago
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Joseph Junewick, MD FACR
|Diagnostic Category: Neoplasia Benign
|Created: over 7 years ago
|Updated: over 7 years ago
4 year old with leg-length discrepancy.
CR – Multiple oval and pyramidal lucent metaphyseal defects in the left lower extremity with genu varus and marked shortening of the extremity compared to the right.
Enchondromatosis is also known as osteochondromatosis, dyschondroplasia and Ollier disease and includes the variant Maffuci syndrome. A mutant receptor (PTH/PTHrP type 1) activates the Hedgehog signaling which may induce enchondromatosis.
Lesions may appear at birth and become more prominent until puberty. Limb shortening and angular deformity are common; lesions involving the digits often result in swelling, deformity and disturbed articulations. Pathologic fractures may occur. Malignant degeneration especially during adulthood and in patients with Maffuci syndrome should be kept in mind.
Curettage of digital enchondromata may minimize functional impairment. Correction of limb length discrepancy and angular deformities may be achieved by Ilisarov osteotomies.
Spranger JW, Brill PW and Poznanski AP. Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development, 2nd Ed. 2002.