SMAD4 and Myhre syndrome: Herein, we present a case of a 13 year-old female considered as having diffuse cutaneous systemic sclerosis, who was subsequently identified to have Myhre syndrome caused by a previously well described heterozygous c.1499 T > C variant in SMAD4. We discuss the therapeutic implications of establishing a genetic diagnosis in this case and provide an overview of genetic mimics of scleroderma.