Recurring gnathodiaphyseal dysplasia in two Russian brothers

Abstract

Two Russian brothers presented with recurring benign facial bone tumors and progressive limb bowing. The association of fibro-osseous jawbone lesions and long-bone bowing with cortical thickening suggested the diagnosis of gnathodiaphyseal dysplasia, in the absence of arguments in favor of fibrous dysplasia. Gnathodiaphyseal dysplasia is a rare autonomic dominant syndrome due to a mutation of the TMEM16E gene. The extreme and recurring phenotype of these two patients illustrates the variable expressivity of this disease. Differential diagnosis with other benign facial bone tumors is discussed.