Erythromelalgia in a child with a KIF2A mutation

A 3-year-old boy presented with recurrent episodes of painful erythema affecting his limbs, face and ears, consistent with a clinical diagnosis of erythromelalgia. Genetic testing of the vascular skin disorders gene panel was negative, but he has a known mutation in the KIF2A gene. This case suggests a possible role of the KIF2A mutation in our patient’s erythromelalgia.