Charcot-Marie-Tooth disease presenting as a nonhealing ulcer in a 26-year-old man

Abstract

A 26-year-old man presented with a nonhealing ulcer on the plantar aspect of the left foot of five years duration. Initial investigations were unremarkable. It was only after careful neurological examination that an inherited neuropathy was suspected. This was confirmed by nerve conduction studies and serum electrophoresis. He subsequently underwent partial great toe amputation for the ulcer and underlying first phalangeal osteomyelitis with uneventful healing. Neuropathic ulcers are usually associated with several well-known disorders including diabetes mellitus, tabes dorsalis, pernicious anemia, and sickle cell disease. A rarer cause is Charcot-Marie-Tooth Disease (CMTD). The report gives a review of CMTD and emphasizes that when faced with a nonhealing ulcer in the younger age group, such an underlying hereditary neuropathic cause must be considered.