Clinical and Imaging Features of Pedal Macrodystrophia Lipomatosa in Two Children with Differential Diagnosis Review

Abstract

Macrodystrophia lipomatosa (ML) is a rare nonhereditary congenital/developmental disorder. It can manifest in limb overgrowth and disfigurement. In consequence, considerable esthetic and functional implications can develop. To overcome such problems, debulking surgery and digit amputation have been practiced. The diagnosis of ML is largely based on accurate clinical assessment and supplementary imaging modalities. The differential diagnosis of an overgrown limb(s) including ML offers numerous challenges in terms of overlapping clinical features and diversity of prognosis of the involved disorders. This study aims to describe the clinical and radiologic characteristics of two girls with ML of the foot. In particular, we intend to explore the role of magnetic resonance imaging (MRI) in clarifying the pathology and supporting the diagnosis. This study demonstrates that accurate history taking and clinical examination provide a valuable key to the diagnosis of foot ML. We used MRI effectively to delineate the characteristics of ML and confirm the diagnosis. Review of the differential diagnosis suggests a potential and important role for magnetic resonance imaging in the differential diagnosis of overgrowth disorders.