Dermatomyositis‐like eruptions and fasciitis with novel compound heterozygous MEFV mutations: Newly recognized features of a variant of familial Mediterranean fever

Abstract

fever (FMF) is a genetic disorder of unknown etiology characterized by frequently relapsing fever and polyserositis. 1 The gene responsible for FMF, the Mediterranean fever gene (MEFV), consists of 10 exons and encodes a protein comprising 781 amino acids called pyrin, which is mainly expressed in granulocytes/monocytes and normally inhibits prointerleukin (IL)-1β cytokine from processing to the active form. Five common mutations (M694V, M694I, M680I, V726A, and E148Q) account for the vast majority of FMF mutations associated with different clinical symptoms. 2 Although molecular genetic testing has become an invaluable diagnostic tool in suspected cases, diagnosis of FMF and exclusion of other diseases remain to be dependent on clinical findings. 3 Herein, we report a case of FMF with dermatomyositis-like eruptions and fasciitis who had novel compound heterozygous mutations in the MEFV gene (L110P, E148Q, and P369S).