Long-Term Follow-up of Progressive Macrodystrophia Lipomatosa

Macrodystrophia lipomatosa is a rare form of congenital localized gigantism that is characterized by slowly progressive overgrowth of the mesenchymal elements, especially the fibroadipose tissue, in a limb1-3. The abnormal tissue is often found along the median nerve in the hand and the plantar nerves in the foot4,5. No causal link between hamartoma of a nerve and soft-tissue enlargement has been established, and evidence of nerve involvement is controversial. We report on two cases of macrodystrophia lipomatosa that caused progressive proximal enlargement along the posterior aspect of the left lower limb in one patient and along the anterior portion of the left upper limb in another. Our search of the literature revealed only one other previously reported case of such progressive enlargement, which was in a purely preaxial distribution6. Both of our patients were informed that information regarding their cases would be submitted for publication. Case 1. A four-month-old girl presented to the clinic with enlarged second and third toes on the left foot. The condition had been present at birth. The mother's pregnancy had been full term and unremarkable. There was no family history of limb malformations or neurofibromatosis. The patient was otherwise healthy and had a normal examination except for very enlarged second and third toes. Radiographs revealed increased soft-tissue density and enlargement of the second and third phalanges and metatarsals (Fig. 1-A). Resection of the second and third rays was performed when the patient was six months of age. Histologically, the resected specimens were enlarged but were otherwise normal in structure and had excessive amounts of normal-appearing adipose tissue. Postoperatively, the foot was noted to be similar in width and height to the contralateral, uninvolved foot. By three months after the operation, the mother noted enlargement …