Macrodystrophia lipomatosa is a sporadic, nonhereditary developmental anomaly and a rare form of congenital localized gigantism. It is characterized by the proliferation of all the mesenchymal elements of a digit or digits, and a disproportionate increase of fibroadipose tissue involving the nerve sheath, muscle, periosteum and bone marrow. In the present study, a 9-month-old boy was referred to Gazi University Hospital (Ankara, Turkey) with congenital unilateral enlargement of the right forefoot, particularly involving the second and third toes. X-ray and magnetic resonance imaging (MRI) scans were performed in order to assess the skeletal structures. The present study described the characteristic imaging features, with an emphasis on the MRI findings, of this rare congenital form of gigantism.
Keywords: congenital localized gigantism; macrodactyly; magnetic resonance imaging.