DOI: 10.1093/ced/llag332 ISSN: 0307-6938
Erythromelalgia in a Child With a KIF2A Mutation
William A Wright, Daniela Iancu, Penny Mancais, Saleem TaibjeeA 3-year-old boy presented with recurrent episodes of painful erythema affecting the 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.