Macrodystrophia Lipomatosa of the Foot

Case: A 37-year-old man presented with pain and macrodactyly of a toe. Imaging and histology demonstrated findings consistent with macrodystrophia lipomatosa (MDL). We compared our findings with control tissue obtained from an identical site of a fresh-frozen cadaveric foot from the same anatomical site. Pacinian corpuscles (PCs) in the MDL tissue were increased in number, size, and shape compared with the control tissue and demonstrated edematous interstitial lamellae and vacuolar degenerative change. We also document the magnetic resonance imaging findings of the PCs. Conclusion: Peculiar abnormalities of PCs in MDL underline nerve damage and may be a contributing factor in the pain associated with this unusual condition.