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 to yield any cases described without osseus gigantism but at the same time the other radiological features failed to fit in with any other related syndromes and the most appropriate diagnosis appears to be MDL. Thus we concluded that this may be a case of a rare, atypical MDL that was arrested or frustrated and therefore failed to demonstrate full expression of the syndrome.
Highlights
Macrodystrophia lipomatosa (MDL) is described as a rare, non-hereditary, congenital condition presenting with localised macrodactyly and a proliferation of mesenchymal elements
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 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
Summary
Macrodystrophia lipomatosa (MDL) is described as a rare, non-hereditary, congenital condition presenting with localised macrodactyly and a proliferation of mesenchymal elements. There was marked increase in the soft-tissue bulk of the entire left arm with focal gigantism involving the thumb and second finger. MRI studies showed diffuse proliferation of fatty tissue throughout the arm, with fat infiltration of the muscles (Figs 2 - 4). Radiographs revealed increased soft tissue throughout the limb, and the underlying bones were normal (Fig. 5). MRI showed diffuse increase of fat in the soft tissues, as well as scattered cystic lesions of varying signal intensity (Figs 6 - 8). This feature has not been described in the literature reports of other cases of MDL, and was thought to be due to either fat necrosis or old haematomas secondary to trauma. Histological analysis revealed proliferation of adipose tissue in keeping with a diagnosis of MDL
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