n SA Journal of Radiology - Imaging of a rare disorder : macrodystrophia lipomatosa : case series

Volume 14, Issue 2
  • ISSN : 1027-202X
  • E-ISSN: 2078-6778



Macrodystrophia lipomatosa (MDL) is described as a rare, non-hereditary, congenital condition presenting with localised macrodactyly and a proliferation of mesenchymal elements. There is in particular a marked increase in fibroadipose tissue. We describe 2 young patients presenting to our department in a 6-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, but all other features of MDL were present. An extensive search of the literature failed to yield any cases described without osseus gigantism; but at the same time, the other radiological features failed to fit in with any other causes of focal gigantism, and the most appropriate diagnosis appears to be MDL. We therefore concluded that this may be a case of a rare, atypical MDL that was arrested or frustrated and so failed to demonstrate full expression of the syndrome.

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