Article
A severe case of primary erythromelalgia presenting as small fiber neuropathy with a novel SCN9A mutation.
The Journal of dermatology - 1 Jul 2023
Watabe Daisuke, Tominaga Mitsutoshi, Toyama Sumika, Takamori Kenji, Nakano Hajime, Amano Hiroo
Abstract excerpt
Primary erythromelalgia (PEM) is a rare condition characterized by severe burning pain, erythema, and increased temperature in the extremeties. Mutations in the Nav1.7 sodium channel encoded by the SCN9A are responsible for PEM. The pathophysiology of PEM is unclear, but the involvement of neurogenic and vasogenic mechanisms has been suggested. Here we report a case of severe PEM in a 9-year-old child with a...
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