Imaging of a rare disorder: macrodystrophia lipomatosa

The finding, in one line

“While our first case demonstrated all the typical features of MDL, our second case failed to demonstrate osseous gigantism although the other features of MDL were present.”

Abstract

Macrodystrophia lipomatosa (MDL) is described as a rare, non-hereditary, congenital condition presenting with localized macrodactyly and a proliferation of mesenchymal elements. There is in particular a marked increase in fibroadipose tissue(1). We describe two cases presenting to our department in a six month period, with a history of disproportionately large limbs since birth. While our first case demonstrated all the typical features of MDL, our second case failed to demonstrate osseous gigantism although the other features of MDL were present. An extensive search of the literature failed t

Abstract by Farhana Ebrahim Suleman; Margaret Kisansa, South African Journal of Radiology (2010) — licensed CC BY 4.0.

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