Beyond the Biopsy: Macrodystrophia Lipomatosa Unmasked After False Osteochondroma Diagnosis
Abstract
Introduction: Macrodystrophia lipomatosa (MDL) is a rare, non-hereditary congenital disorder of localized gigantism caused by disproportionate proliferation of fibroadipose tissue in all mesenchymal elements of the affected extremity. Its clinical, radiological, and histopathological features can closely mimic those of osteochondroma - the most common benign bone tumor - leading to misdiagnosis, inappropriate surgery, and rapid recurrence. We report a case in which a recurrent foot swelling in a child, twice confirmed as osteochondroma on histopathology, was revised to MDL and successfully managed with staged reconstruction.
Case report: A 9-year-old male presented in 2024 with a progressively enlarging, recurrent swelling over the medial aspect of the right foot associated with overlying skin changes. The swelling had first been noted when the child began walking. Initial excision at an outside institution had yielded a histopathological diagnosis of osteochondroma arising from the head of the first metatarsal. Recurrence occurred within 2-3 months. Repeat biopsy in September 2020 again reported osteochondroma; a skeletal survey showed no additional lesions. By 2024, continued enlargement with soft-tissue involvement, friable overlying skin, and radiological features prompted a revised diagnosis of MDL. A two-stage surgical approach was undertaken. Stage one comprised wide local excision, polymethylmethacrylate (bone cement) spacer placement with K-wire stabilization of the…
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